Relevant bibliographies by topics / Syndromic microphthalmia

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters

Academic literature on the topic 'Syndromic microphthalmia'

Author: Grafiati
Published: 3 May 2025

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Journal articles on the topic "Syndromic microphthalmia"

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Plaisancié, J., F. Ceroni, R. Holt, C. Zazo Seco, P. Calvas, N. Chassaing, and Nicola K. Ragge. "Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia." Human Genetics 138, no. 8-9 (February 14, 2019): 799–830. http://dx.doi.org/10.1007/s00439-019-01977-y.

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Johnston, Jennifer J., Kathleen A. Williamson, Christopher M. Chou, Julie C. Sapp, Morad Ansari, Heather M. Chapman, David N. Cooper, et al. "NAA10 polyadenylation signal variants cause syndromic microphthalmia." Journal of Medical Genetics 56, no. 7 (March 6, 2019): 444–52. http://dx.doi.org/10.1136/jmedgenet-2018-105836.

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BackgroundA single variant in NAA10 (c.471+2T>A), the gene encoding N-acetyltransferase 10, has been associated with Lenz microphthalmia syndrome. In this study, we aimed to identify causative variants in families with syndromic X-linked microphthalmia.MethodsThree families, including 15 affected individuals with syndromic X-linked microphthalmia, underwent analyses including linkage analysis, exome sequencing and targeted gene sequencing. The consequences of two identified variants in NAA10 were evaluated using quantitative PCR and RNAseq.ResultsGenetic linkage analysis in family 1 supported a candidate region on Xq27-q28, which included NAA10. Exome sequencing identified a hemizygous NAA10 polyadenylation signal (PAS) variant, chrX:153,195,397T>C, c.*43A>G, which segregated with the disease. Targeted sequencing of affected males from families 2 and 3 identified distinct NAA10 PAS variants, chrX:g.153,195,401T>C, c.*39A>G and chrX:g.153,195,400T>C, c.*40A>G. All three variants were absent from gnomAD. Quantitative PCR and RNAseq showed reduced NAA10 mRNA levels and abnormal 3′ UTRs in affected individuals. Targeted sequencing of NAA10 in 376 additional affected individuals failed to identify variants in the PAS.ConclusionThese data show that PAS variants are the most common variant type in NAA10-associated syndromic microphthalmia, suggesting reduced RNA is the molecular mechanism by which these alterations cause microphthalmia/anophthalmia. We reviewed recognised variants in PAS associated with Mendelian disorders and identified only 23 others, indicating that NAA10 harbours more than 10% of all known PAS variants. We hypothesise that PAS in other genes harbour unrecognised pathogenic variants associated with Mendelian disorders. The systematic interrogation of PAS could improve genetic testing yields.
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Ng, David, Donald W. Hadley, Cynthia J. Tifft, and Leslie G. Biesecker. "Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: Is Lenz microphthalmia a single disorder?" American Journal of Medical Genetics 110, no. 4 (June 27, 2002): 308–14. http://dx.doi.org/10.1002/ajmg.10484.

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Courdier, Cécile, Anna Gemahling, Damien Guindolet, Amandine Barjol, Claire Scaramouche, Laurence Bouneau, Patrick Calvas, Gilles Martin, Nicolas Chassaing, and Julie Plaisancié. "EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia." European Journal of Medical Genetics 65, no. 10 (October 2022): 104574. http://dx.doi.org/10.1016/j.ejmg.2022.104574.

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Eintracht, Jonathan, Marta Corton, David FitzPatrick, and Mariya Moosajee. "CUGC for syndromic microphthalmia including next-generation sequencing-based approaches." European Journal of Human Genetics 28, no. 5 (January 2, 2020): 679–90. http://dx.doi.org/10.1038/s41431-019-0565-4.

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Zahrani, Fatema, Mohammed A. Aldahmesh, Muneera J. Alshammari, Selwa A. F. Al-Hazzaa, and Fowzan S. Alkuraya. "Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia." American Journal of Human Genetics 92, no. 3 (March 2013): 387–91. http://dx.doi.org/10.1016/j.ajhg.2013.01.008.

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Apam-Garduño, David, Vianney Cortés-González, Luis Quintana-Fernández, Daniel Martínez-Anaya, Patricia Pérez-Vera, and Cristina Villanueva-Mendoza. "The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia." Ophthalmic Genetics 40, no. 6 (November 2, 2019): 584–87. http://dx.doi.org/10.1080/13816810.2019.1698618.

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Schimmenti, Lisa A., June de la Cruz, Richard Alan Lewis, J. D. Karkera, Glenda S. Manligas, Erich Roessler, and Maximilian Muenke. "Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia." American Journal of Medical Genetics 116A, no. 3 (December 26, 2002): 215–21. http://dx.doi.org/10.1002/ajmg.a.10884.

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Faiyaz-Ul-Haque, M., SHE Zaidi, MS Al-Mureikhi, I. Peltekova, L.-C. Tsui, and AS Teebi. "Mutations in theCHX10gene in non-syndromic microphthalmia/anophthalmia patients from Qatar." Clinical Genetics 72, no. 2 (July 5, 2007): 164–66. http://dx.doi.org/10.1111/j.1399-0004.2007.00846.x.

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Kraus, Cornelia, Steffen Uebe, Christian T. Thiel, Arif B. Ekici, André Reis, and Christiane Zweier. "Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu." American Journal of Medical Genetics Part A 176, no. 12 (November 18, 2018): 2872–76. http://dx.doi.org/10.1002/ajmg.a.40640.

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Dissertations / Theses on the topic "Syndromic microphthalmia"

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Semaan, Hanna. "Proteomic study of mechanisms, targets and potential treatments of neurological disorders associated with RARβ point mutations (MCOPS-12)." Electronic Thesis or Diss., Strasbourg, 2025. http://www.theses.fr/2025STRAJ007.

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La Microphtalmie Syndromique 12 (MCOPS12) est une maladie rare caractérisée par une gamme de symptômes cliniques, comprenant des déficiences intellectuelles et des troubles moteurs progressifs. MCOPS12 est causée par des mutations ponctuelles de novo dans le gène du récepteur de l'acide rétinoïque bêta (RARβ), un médiateur de la signalisation de la vitamine A essentiel au développement cérébral et aux fonctions neuronales. Les mécanismes physiopathologiques sous-jacents de cette maladie demeurent inconnus, et aucun traitement curatif n'est actuellement disponible. Par conséquent, l'objectif global de cette thèse est d'identifier les mécanismes potentiels contribuant à la physiopathologie de MCOPS12 et par la suite proposer des traitements pharmacologiques pour prévenir ou atténuer les symptômes associés. Plus précisément, ce travail utilise des approches protéomiques pour analyser l'impact des mutations du RARβ sur la composition de son complexe protéique ainsi que sur la communication neuronale dans le striatum. Notre étude a identifié un renforcement de la signalisation glutamatergique et dopaminergique dans le striatum des modèles murins de MCOPS12. La modulation pharmacologique de ces voies a montré des effets bénéfiques dans la normalisation de certains symptômes associés à cette maladie. De plus, nos résultats démontrent que différentes mutations du RARβ modifient la composition des protéines interagissant avec RARβ de manière spécifique à la mutation. L'altération des interactions avec les corégulateurs révélée dans des lignées cellulaires de neuroblastome humain pourrait être à l'origine du contrôle transcriptionnel perturbé, conduisant ainsi à MCOPS12
Syndromic Microphthalmia 12 (MCOPS12) is a rare syndromic disorder characterized by a range of clinical symptoms, including intellectual disabilities and progressive motor impairments. MCOPS12 is caused by de novo point mutations in the retinoic acid receptor beta (RARβ) gene, a mediator of vitamin A signaling essential for brain development and neural functions. Importantly, the underlying pathophysiological mechanisms of this disease remains unknown, and no curative treatment is currently available. Therefore, the overall aim of this thesis is to identify potential mechanisms contributing to MCOPS12 pathophysiology and to propose pharmacological treatments for preventing or alleviating associated symptoms. Specifically, this work employs proteomics approaches to interrogate the impact of RARβ mutations on the composition of RARϐ protein complex as well as on neuronal communication in the striatum. Our study identified enhanced glutamatergic and dopaminergic signaling in the striatum of MCOPS12 mouse models. Pharmacological targeting of these pathways showed some beneficial effects in normalizing selected MCOPS12-associated symptoms. Furthermore, our results demonstrate that different RARβ mutations alter composition of proteins interacting with RARϐ in a mutation-specific manner. Alteration of interactions with coregulators revealed in human neuroblastoma cell lines, may underlie to disrupted transcriptional control leading thereby to MCOPS12
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Kutsche, Kerstin, Walter Werner, Oliver Bartsch, der Wense Axel von, Peter Meinecke, and Andreas Gal. "Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-137662.

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The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder with male lethality. In the majority of the patients reported, the MLS syndrome is caused by segmental monosomy of the Xp22.3 region. To date, five male patients with MLS and 46,XX karyotype (“XX males”) have been described. Here we report on the first male case with MLS and an XY complement. The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13∼22.2p22.32∼22.33)[49]/46,XY[271]. By fluorescence in situ hybridization (FISH), we showed that YAC 225H10 spans the breakpoint in Xp22.3. End-sequencing and database analysis revealed a YAC insert of at least 416 kb containing the genes HCCS and AMELX, and exons 2–16 of ARHGAP6. Molecular cytogenetic data suggest that the Xp22.3 inversion breakpoint is located in intron 1 of ARHGAP6, the gene encoding the Rho GTPase activating protein 6. Future molecular studies in karyotypically normal female MLS patients to detect submicroscopic rearrangements including the ARHGAP6 gene as well as mutation screening of ARHGAP6 in patients with no obvious chromosomal rearrangements will clarify the role of this gene in MLS syndrome
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich
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Kutsche, Kerstin, Walter Werner, Oliver Bartsch, der Wense Axel von, Peter Meinecke, and Andreas Gal. "Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp." Karger, 2002. https://tud.qucosa.de/id/qucosa%3A27747.

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The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder with male lethality. In the majority of the patients reported, the MLS syndrome is caused by segmental monosomy of the Xp22.3 region. To date, five male patients with MLS and 46,XX karyotype (“XX males”) have been described. Here we report on the first male case with MLS and an XY complement. The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13∼22.2p22.32∼22.33)[49]/46,XY[271]. By fluorescence in situ hybridization (FISH), we showed that YAC 225H10 spans the breakpoint in Xp22.3. End-sequencing and database analysis revealed a YAC insert of at least 416 kb containing the genes HCCS and AMELX, and exons 2–16 of ARHGAP6. Molecular cytogenetic data suggest that the Xp22.3 inversion breakpoint is located in intron 1 of ARHGAP6, the gene encoding the Rho GTPase activating protein 6. Future molecular studies in karyotypically normal female MLS patients to detect submicroscopic rearrangements including the ARHGAP6 gene as well as mutation screening of ARHGAP6 in patients with no obvious chromosomal rearrangements will clarify the role of this gene in MLS syndrome.
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
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IAPICHINO, GIUSEPPE. "Use of next generation sequencing for isolated and syndromic Anophthalmia, Microphthalmia and Coloboma (MAC): a new approach to molecular genetic diagnosis." Doctoral thesis, 2018. http://hdl.handle.net/11573/1058478.

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ABSTRACT: Use of Next Generation Sequencing for isolated and syndromic Anophthalmia, Microphthalmia and Coloboma (MAC): a new approach to molecular genetic diagnosis Department in Cellular Biotechnologies and Hematology PhD in Human Biology and Medical Genetics Supervisor: Prof. Pizzuti Antonio Correlator: Prof. Novelli Antonio Phd student: Dott. Iapichino Giuseppe In these last few years, both mendelian and complex diseases have reached a higher level of accuracy in the analytical process, with a more efficient diagnostic definition and also a more detailed genotype-phenotype correlation. Complex syndromic pathologies, such as microphthalmia and anophthalmia, often accompanied by complex clinical pictures, and characterized by a high level of genetic and phenotypic heterogeneity, can now be handled in a faster and thorough manner. Currently, national or international shared guidelines have yet to be defined and a phenotypic or genetic classification of these diseases is still missing. Similarly to what happens for most rare diseases, the diagnostic and care management of children with ocular syndromes suffers heavily from the absence of strong scientific knowledge that would help in the development of shared guidelines, mainly because the phenotypic heterogeneity of these diseases is massive. The aim of this project was to carefully investigate the genes involved in microphthalmia, anophthalmia, coloboma and related syndromic diseases using Next Generation Sequencing. This new molecular approach allows to make a massive sequencing of different genomic regions. The possibility to analyze millions of sequencing reactions in parallel at very reduced costs, with shorter processing times and very little amounts of initial DNA, has provided a formidable boost for the study of rare diseases. In the present study, a panel of different genes involved in the ocular development has been designed to simultaneously and rapidly analyze multiple ocular genes of a patient by using the Illumina-Nextseq 500 platform. NGS allowed us to analyze several genes for a given patient and to identify variants both in genes directly involved in the pathogenesis of anophthalmia, microphthalmia and coloboma, both in genes not directly implicated in syndromic or isolated MACs. This allowed us to understand at a molecular level many of those phenotypes described as shaded, atypical or not perfectly defined in a specific syndrome. In this regard, the continuous interaction with the referring physicians has been fundamental in our study, highlighting the importance of the collaboration between the lab scientist and the clinical geneticist that will eventually help to find a link between the phenotypes described and the many variants still to be identified.
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Indrieri, Alessia. "A medaka model to study the the molecular basis of Microphthalmia with Linear Skin defects (MLS) syndrome." Tesi di dottorato, 2010. http://www.fedoa.unina.it/8451/1/indrieri_alessia_22.pdf.

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The Microphthalmia with linear skin defects (MLS) syndrome is an X- linked dominant male-lethal neuro-developmental disorder associated to mutations in the holocytochrome c-type synthetase (HCCS) transcript. Female patients display unilateral or bilateral microphthalmia and linear skin defects, additional features include central nervous system (CNS) malformation and mental retardation. HCCS codifies a mitochondrial protein that catalyzes the attachment of heme to both apocytochrome c and c1, necessary for proper functioning of the mitochondrial respiratory chain. Although mutation analysis clearly indicates a role for HCCS in the pathogenesis of this genetic condition, the molecular mechanisms underlying the developmental anomalies in the presence of HCCS dysfunction are still unknown. Previous studies demonstrated the early lethality of mouse embryonic Hccs knock-out stem cells. To overcome the problem of the possible embryonic lethality, we decided to generate an animal model for MLS syndrome in the medaka fish (Oryzia latipes) using a morpholino-based technology. Fish models (zebrafish and medaka) are considered good models to study developmental biology processes and in particular eye developmental defects. Three specific morpholinos directed against different portions of the olhccs transcript have been designed and injected and our data indicated that all morpholinos effectively downregulate the expression of the olhccs gene. The injection of the three different morpholinos resulted in a pathological phenotype, which resembles the human condition. Morphants displayed microphthalmia, coloboma, and microcephaly associated to a severe cardiac pathology. To date, this is the only animal model that recapitulates the phenotype observed in MLS syndrome. Analysis with markers for specific retinal cell types showed defects in differentiation of the ventral neural retina. Characterization of morphants revealed that hccs down-regulation results in impairment of mitochondrial functions, overproduction of reactive oxygen species (ROS) and a strong increase of apoptosis mediated by activation of the mitochondrial-dependent cell death pathway in the CNS and in the eyes. Our results clearly indicate that HCCS plays a critical role in mitochondria and imply that MLS should be considered a mitochondrial disease. It is well established that the intrinsic mitochondrial dependent apoptotic pathway rely on the formation of apoptosomes, which require the presence and/or the activity of cytochrome c, Apaf1, and caspase 9. Detailed studies of the mechanisms that underlie intrinsic apoptosis have shown that the heme group of cytochrome c is necessary for Apaf1 activation, apoptosome formation and activation of caspase 9. Interestingly, our data indicate that, in our model, the mitochondrial dependent apoptosis is triggered by caspase 9 activation and occur in a Bcl-dependent but apoptosome-independent manner suggesting that at least in some tissues the apoptosis can occur in a non-canonical way. Our data support the evidence of an apoptosome-indipendent activation of caspase 9 and suggest the possibility that this event might be tissue specific. Our study shed new light into the functional role of HCCS in the mitochondria. In addition, we provide strong evidences that mitochondrial mediated apoptotic events underlie microphtalmia providing new insights into the mechanisms of this developmental defect.
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Leduc, Elizabeth. "Anomalies oculaires chez le modèle murin C57Bl/6Toupee : implications sur la variabilité phénotypique du syndrome CHARGE et sur le rôle de FAM172A dans le développement oculaire." Thèse, 2019. http://hdl.handle.net/1866/23632.

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Le syndrome CHARGE est une maladie génétique rare dont l’acronyme désigne les principales anomalies initialement identifiées pour décrire ce syndrome : colobome, problèmes cardiaques, atrésie des choanes, retard mental et de développement, anomalies génitales et défauts aux oreilles. Les patients présentent des combinaisons hautement variables d’anomalies et ce même entre individus d’une même famille. La principale cause de ce syndrome est une mutation du gène CHD7, mais de nouveaux gènes dont la mutation peut également engendrer ce syndrome, tel FAM172A , ont récemment été identifiés. Le modèle murin Toupee porte une mutation dans le gène Fam172a et présente les principales caractéristiques du syndrome CHARGE. Fait intéressant, si FVBToupee présente dans une forte proportion le colobome oculaire, 55% des individus B6ToupeeTg/Tg et 16% des individus B6ToupeeTg/+ présentent de la microphtalmie et de l’anophtalmie. Ces anomalies oculaires ont tout d’abord été caractérisées. Les études menées ont notamment permis d’identifier que chez B6Toupee la microphtalmie et l’anophtalmie sont beaucoup plus fréquentes dans l’œil droit et qu’elles se déclinent en plusieurs degrés variables d’atteinte au globe oculaire. Par la suite, l’étude comparative des modèles ToupeeTg/Tg et Chd7Gt/+a été réalisée dans les fonds génétiques FVB et C57Bl/6. Des différences significatives de pénétrance de même que des divergences phénotypiques ont permis de déterminer que l’identité du gène à l’origine du syndrome CHARGE et que le fond génétique modulent tous deux le développement phénotypique du syndrome CHARGE. Finalement, l’étude de doubles hétérozygotes FVBToupeeTg/+ ;Chd7Gt/+ a permis de confirmer une interaction génétique modérée entre Fam172a et Chd7 tandis que l’investigation de la mortalité néonatale chez Chd7Gt/+ a permis de suspecter des problèmes d’alimentation.
CHARGE syndrome is a rare genetic disease for which the acronym stands for the main characteristics initially identified to describe the syndrome: coloboma, heart problems, choanal atresia, retarded growth and development, genital anomalies and ear defects. Patients present highly variable combinations of anomalies, even between members of the same family. The main cause of this syndrome is a mutation in the CHD7 gene, but new genes whose mutation can also give rise to this syndrome, such as FAM172A, were recently identified. The Fam172a gene is mutated in the Toupee mouse model, which presents the main characteristics of CHARGE syndrome. Interestingly, while FVBToupee animals present coloboma in a strong proportion, 55% of B6ToupeeTg/Tg individuals and 16% of B6ToupeeTg/+ individuals present microphthalmia and anophthalmia. First, detailed characterization of these ocular anomalies revealed that microphthalmia and anophthalmia are much more frequent in the right eye of B6Toupee mice, with varying degrees of severity. Then, comparative analysis of ToupeeTg/Tg and Chd7Gt/+models in FVB and C57Bl/6 genetic backgrounds further revealed significant differences in penetrance and phenotypic presentation, suggesting that the identity of the causative gene and the genetic background both modulate phenotypic outcome of CHARGE syndrome. Finally, characterization of FVBToupeeTg/+;Chd7Gt/+ double heterozygotes confirmed a moderate genetic interaction between Fam172a and Chd7 while investigations of Chd7Gt/+ neonatal mortality allowed to suspect feeding problems.
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Books on the topic "Syndromic microphthalmia"

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Chamberland, Leda. Coloring Book - You Will Get Better - Bosma Arhinia Microphthalmia Syndrome. Independently Published, 2021.

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Book chapters on the topic "Syndromic microphthalmia"

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Hagel, Christian, and Christos P. Panteliadis. "MIDAS Syndrome (Microphthalmia with Linear Skin Defects)." In Neurocutaneous Disorders, 227–30. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-87893-1_18.

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Clark, Robin D., and Cynthia J. Curry. "Eye Anomalies." In Genetic Consultations in the Newborn, edited by Robin D. Clark and Cynthia J. Curry, 69–78. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0010.

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This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of various isolated and syndromic congenital eye anomalies that are apparent in the newborn including anophthalmia, microphthalmia, aniridia, coloboma, cataracts, corneal opacities, and ptosis. The discussion on the differential diagnosis of ocular anomalies summarizes its common causes, including teratogenic agents (alcohol, retinoic acid, rubella, Vitamin A deficiency), chromosome anomalies (aneuploidy, copy number variants), and Mendelian disorders that include multiple congenital anomalies in other organ systems. The chapter provides recommendations for evaluation and management. A clinical case presentation features a dysmorphic male infant with bilateral microphthalmia and opaque corneas who has Lenz microphthalmia syndrome.
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Hilton, Emma, Graeme C. M. Black,, and Vivian Bardwell. "BCOR and Oculofaciocardiodental Syndrome." In Inborn Errors Of Development, 987–94. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0108.

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Abstract In 1980, Hayward described a female with canine (cuspid) radiculomegaly associated with congenital cataracts (Hayward, 1980). Further cases of individuals with similar dental anomalies and congenital cataracts were reported by Marashi and Gorlin (1990, 1992). Wilkie et al. (1993) proposed that this phenotype, in combination with distinctive cardiac and facial findings, comprised a novel syndrome and the term oculofaciocardiodental (OFCD) syndrome was recommended to refer to this disorder (Gorlin et al., 1996). Due to recent changes in nomenclature, OFCD syndrome is now referred to as syndromic microphthalmia 2 (MCOPS2; OMIM 300166). However, the term OFCD syndrome is used throughout this chapter. Since it was defined, the condition has been reported around 30 times, exclusively in females. In 2004, Ng et al. demonstrated that presumed null mutations in the X-linked BCL-6 corepressor (BCOR) gene, which encodes BCOR, are responsible for OFCD syndrome (Ng et al., 2004). Since those individuals tested have skewed inactivation in favor of the wild type allele, it is presumed that OFCD syndrome is X-linked dominant with male lethality. In addition to causing OFCD, a missense mutation in BCOR has been described in a single family with MCOPS2 (X-linked recessive Lenz microphthalmia syndrome), suggesting a correlation between mutation type and phenotype.
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Stevenson, Roger E., Charles E. Schwartz, and R. Curtis Rogers. "Lenz Microphthalmia Syndrome." In Atlas of X-Linked Intellectual Disability Syndromes, 122–23. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199811793.003.0063.

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Hornyak, Thomas J., Nancy M. Chung,, and Masayoshi Tachibana. "MITF and the Waardenburg Type II and Albinism–Deafness (Tietz) Syndromes." In Inborn Errors Of Development, 1038–41. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0114.

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Abstract Microphthalmia-associated transcription factor (MITF) is a member of a large family of proteins with basic helix–loop–helix leucine zipper (bHLHZip) domains. Mutations in this transcription factor initially have been described in mice showing microphthalmia, variable pigmentary loss, and hearing deficit. Similar phenotypes can be seen in humans with Waardenburg Type II Syndrome (WS2) and Albinism–Deafness (Tietz) Syndrome with mutations in MITF. The manifestations of MITF mutations result from loss of melanocytes in the eyes, skin, and cochlea emphasizing the importance of this protein in the differentiation and maintenance of melanocytes.
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Liu, Dongyou. "Microphthalmia-Associated Transcription Family Translocation Renal Cell Cancer." In Handbook of Tumor Syndromes, 293–99. CRC Press, 2020. http://dx.doi.org/10.1201/9781351187435-34.

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Gorlin, Robert J., M. Michael Cohen, and Raoul C. M. Hennekam. "Orofacial Clefting Syndromes: Associations." In Syndromes of the Head and Neck, 966–76. Oxford University PressNew York, NY, 2001. http://dx.doi.org/10.1093/oso/9780195118612.003.0023.

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Abstract Aicardi syndrome consists of seizures, callosal agenesis, severe mental retardation, delayed development, and ocular abnormalities (chorioretinal lacunae, microphthalmia) occurring in retarded females. It is believed to be caused by an X-linked dominant gene that is lethal in the hemizygous male. The gene maps to Xp22.3 (1). Death usually occurs during the first decade of life. The syndrome has been reported in association with porencephaly, corticoheterotopias, Arnold-Chiari malformation, papilloma of the choroid plexus, lissencephaly, ventricular cyst, polygyria, microgyria, arhinencephaly, and Dandy–Walker malformation. It has been estimated that cleft lip-palate (1–6) is found in about 3% of the cases. Holoprosencephaly (5) has also been described
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Gorlin, Robert J., M. Michael Cohen, and Raoul C. M. Hennekam. "Syndromes with Unusual Dental Findings." In Syndromes of the Head and Neck, 1107–32. Oxford University PressNew York, NY, 2001. http://dx.doi.org/10.1093/oso/9780195118612.003.0027.

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Abstract Marashi and Gorlin (5,6), in 1990 and 1992, described three examples of binary combination of congenital cataracts and canine radiculomegaly. They cited an earlier example of Hayward (3) in which canine radiculomegaly, delayed dentition, persistent primary teeth, oligodontia, and congenital cataracts were found in an 18-year-old female. Wilkie et al (11) reported a mother and daughter with congenital cataract, microphthalmia, and septal heart defect, suggesting that this combination represented a new syndrome. Gorlin et al (2) employed the name oculo-facio-cardiodental syndrome. About a dozen examples have been described to date (1–11).
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9

Aligianis, Irene, and Eamonn R. Maher. "RAB3GAP1 and RAB3GAP2 and the Warburg Micro and Martsolf Syndromes." In Inborn Errors Of Development, 1299–303. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0146.

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Abstract Warburg Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are autosomal recessive neurodevelopmental disorders that may result from the dysregulation of the Rab3 pathway. Inactivating germline mutations in RAB3GAP1, which encodes the catalytic subunit of the heterodimeric Rab3 GTPase-activating pro- tein (Rab3GAP), cause Micro syndrome in approximately 60–70% of cases. Mutations in the noncatalytic subunit, RAB3GAP2, have been associated with Martsolf syndrome. Micro syndrome is a severe disorder characterized by ocular (microphthalmos, microcornea, congenital cataracts, optic atrophy); neurodevelopmental (microcephaly, cortical gyral abnormalities—polymicrogyria, hypoplasia of the cor- pus callosum, severe learning disability, spastic cerebral palsy) and endocrine abnormalities. Martsolf syndrome has an overlapping but less severe phenotype. In both disorders, there is also evidence for locus heterogeneity.
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10

Indrieri, Alessia, and Brunella Franco. "Microphthalmia With Linear Skin Lesions (MLS) Syndrome: An Unconventional Mitochondrial Disorder." In Epstein's Inborn Errors of Development, 1449–51. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199934522.003.0223.

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