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Journal articles on the topic 'CNTNAP2 gene'

Author: Grafiati

Published: 18 May 2024

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1

Varea, Olga, Maria Dolores Martin-de-Saavedra, Katherine J. Kopeikina, et al. "Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons." Proceedings of the National Academy of Sciences 112, no. 19 (2015): 6176–81. http://dx.doi.org/10.1073/pnas.1423205112.

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Central glutamatergic synapses and the molecular pathways that control them are emerging as common substrates in the pathogenesis of mental disorders. Genetic variation in the contactin associated protein-like 2 (CNTNAP2) gene, including copy number variations, exon deletions, truncations, single nucleotide variants, and polymorphisms have been associated with intellectual disability, epilepsy, schizophrenia, language disorders, and autism. CNTNAP2, encoded by Cntnap2, is required for dendritic spine development and its absence causes disease-related phenotypes in mice. However, the mechanisms

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2

Papale, Ligia A., Andy Madrid, Qi Zhang, et al. "Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders." Genome Research 32, no. 2 (2021): 266–79. http://dx.doi.org/10.1101/gr.276137.121.

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Mouse knockouts of Cntnap2 show altered neurodevelopmental behavior, deficits in striatal GABAergic signaling, and a genome-wide disruption of an environmentally sensitive DNA methylation modification (5-hydroxymethylcytosine [5hmC]) in the orthologs of a significant number of genes implicated in human neurodevelopmental disorders. We tested adult Cntnap2 heterozygous mice (Cntnap2+/−; lacking behavioral or neuropathological abnormalities) subjected to a prenatal stress and found that prenatally stressed Cntnap2+/− female mice show repetitive behaviors and altered sociability, similar to the h

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3

Memis, Idil, Rahul Mittal, Emily Furar, et al. "Altered Blood Brain Barrier Permeability and Oxidative Stress in Cntnap2 Knockout Rat Model." Journal of Clinical Medicine 11, no. 10 (2022): 2725. http://dx.doi.org/10.3390/jcm11102725.

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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by three core symptoms, specifically impaired social behavior, stereotypic/repetitive behaviors, and sensory/communication deficits. Although the exact pathophysiology of ASD is still unknown, host genetics, oxidative stress, and compromised blood brain barrier (BBB) have been implicated in predisposition to ASD. With regards to genetics, mutations in the genes such as CNTNAP2 have been associated with increased susceptibility of developing ASD. Although some studies observed conflicting results suggesting no associa

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4

Al-Murrani, Amel, Fern Ashton, Salim Aftimos, Alice M. George, and Donald R. Love. "Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay." Case Reports in Genetics 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/172408.

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Thecontactin-associated protein-like 2(CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb deletion within theCNTNAP2gene that is maternally inherited in two male siblings, but with a variable clinical phenotype. This variability is described in the context of a limited number of other cases reported in the literature. The in-frame intragenic deletion removes a critical domain of the CNTNAP2 pr

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5

Fang, Fang, Minxia Ge, Jun Liu, et al. "Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder." Behavioural Neurology 2021 (June 28, 2021): 1–6. http://dx.doi.org/10.1155/2021/4150926.

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Objective. Genetic factors play an important role in the development of autism spectrum disorder (ASD). This case-control study was to determine the association between childhood ASD and single nucleotide polymorphisms (SNPs) rs3746599 in the DUSP15 gene, rs7794745 in the CNTNAP2 gene, and rs251379 in the PCDHA gene in a Chinese Han population. Methods. Genotypes of SNPs were examined in DNA extracted from blood cells from 201 children with ASD and 200 healthy controls. The Children Autism Rating Scale (CARS) was applied to evaluate the severity of the disease and language impairment. The rela

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Bartolome, Ruby, Tomoko Kaneko-Tarui, Jill Maron, and Emily Zimmerman. "The Utility of Speech-Language Biomarkers to Predict Oral Feeding Outcomes in the Premature Newborn." American Journal of Speech-Language Pathology 29, no. 2S (2020): 1022–29. http://dx.doi.org/10.1044/2019_ajslp-csw18-19-0027.

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Purpose Successful oral feeding and speech emergence are dependent upon the coordination of shared oral muscles and facial nerves. We aimed to determine if the speech-associated genes, forkhead box P2 (FOXP2) , contactin-associated protein-like 2 (CNTNAP2 ), glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) , and neurexin 1, were detectable in neonatal saliva and could predict feeding outcomes in premature newborns. Method In this prospective, observational, preliminary study, saliva collected from 51 premature infants (gestational ages: 30–34 6/7 weeks) at different stages of o

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7

Ranieri, Annaluisa, Iolanda Veneruso, Ilaria La Monica, et al. "Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report." Medicina 58, no. 4 (2022): 522. http://dx.doi.org/10.3390/medicina58040522.

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Background and Objectives: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is increasing our knowledge regarding the molecular bases of complex diseases like autism spectrum disorder (ASD). ASD is a group of heterogeneous diseases with multifactorial origins. Genetic factors seem to be involved, albeit they remain still largely unknown. Here, we report the case of a child with a clinical suspicion of ASD investigated by using such a genomic high-resolution approach. Materials and Methods: Bot

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8

Folia, Vasiliki, Christian Forkstam, Martin Ingvar, and Karl Magnus Petersson. "Implicit Artificial Syntax Processing: Genes, Preference, and Bounded Recursion." Biolinguistics 5, no. 1-2 (2011): 105–32. http://dx.doi.org/10.5964/bioling.8835.

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The first objective of this study was to compare the brain network engaged by preference classification and the standard grammaticality classification after implicit artificial syntax acquisition by re-analyzing previously reported event-related fMRI data. The results show that preference and grammaticality classification engage virtually identical brain networks, including Broca’s region, consistent with previous behavioral findings. Moreover, the results showed that the effects related to artificial syntax in Broca’s region were essentially the same when masked with variability related to na

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9

Mittal, Rea, Ashutosh Kumar, Roger Ladda, Gayatra Mainali, and Ermal Aliu. "Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings." Child Neurology Open 8 (January 2021): 2329048X2110553. http://dx.doi.org/10.1177/2329048x211055330.

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Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660Ffsx9 frameshift variant have not been published previously. In this case report, the proband is a seven year old female with PTHLS1, developmental delay, autism spectrum disorder, focal epilepsy, hypotonia, refractory errors, strabismus, and obstructive sleep apnea. Whole exome sequencing analysis r

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10

Das, Arundhuti, Luca Pagliaroli, Andrea Vereczkei, et al. "Association of GDNF and CNTNAP2 gene variants with gambling." Journal of Behavioral Addictions 8, no. 3 (2019): 471–78. http://dx.doi.org/10.1556/2006.8.2019.40.

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11

Fernandes, Dominique, Sandra D. Santos, Ester Coutinho, et al. "Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2." Cerebral Cortex 29, no. 12 (2019): 4919–31. http://dx.doi.org/10.1093/cercor/bhz032.

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Abstract Neuropsychiatric disorders share susceptibility genes, suggesting a common origin. One such gene is CNTNAP2 encoding contactin-associated protein 2 (CASPR2), which harbours mutations associated to autism, schizophrenia, and intellectual disability. Antibodies targeting CASPR2 have also been recently described in patients with several neurological disorders, such as neuromyotonia, Morvan’s syndrome, and limbic encephalitis. Despite the clear implication of CNTNAP2 and CASPR2 in neuropsychiatric disorders, the pathogenic mechanisms associated with alterations in CASPR2 function are unkn

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12

Friedman, J. I., T. Vrijenhoek, S. Markx, et al. "CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy." Molecular Psychiatry 13, no. 3 (2007): 261–66. http://dx.doi.org/10.1038/sj.mp.4002049.

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13

Alarcón, Maricela, Brett S. Abrahams, Jennifer L. Stone, et al. "Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene." American Journal of Human Genetics 82, no. 1 (2008): 150–59. http://dx.doi.org/10.1016/j.ajhg.2007.09.005.

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14

Siddiqua, Hafsa, Yasmin Akter, Md Arju Mia, Mst Sharika Ahmed, Mahmood Ahmed Chowdhury, and Lolo Wal Marzan. "A case-control study along with an epidemiological approach to CNTNAP2 polymorphism among Bangladeshi ASD children." Asian Journal of Medical and Biological Research 8, no. 2 (2022): 79–93. http://dx.doi.org/10.3329/ajmbr.v8i2.59511.

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ASD (Autism Spectrum Disorder) is a neuropsychiatric disorder with a hereditary component, and its prevalence in South Asia was assessed 1, out of every 93 children. Moreover, recent studies suggested that the etiology of autism is thought to be linked to anomalies in the synapse, where mutation or deletion of synaptic gene CNTNAP2 is responsible. Therefore, this research was aimed to find out specific signs and symptoms of ASD individuals as well as the distribution pattern of the CNTNAP2 allelic variant (rs7794745) as a genetic risk factor in the Bangladeshi population. A case-control study

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15

Gandhi, Tanya, Cade R. Canepa, Tolulope T. Adeyelu, Philip A. Adeniyi, and Charles C. Lee. "Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum Disorder." Brain Sciences 13, no. 6 (2023): 891. http://dx.doi.org/10.3390/brainsci13060891.

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Autism spectrum disorder (ASD) is associated with neurodevelopmental alterations, including atypical forebrain cellular organization. Mutations in several ASD-related genes often result in cerebral cortical anomalies, such as the abnormal developmental migration of excitatory pyramidal cells and the malformation of inhibitory neuronal circuitry. Notably here, mutations in the CNTNAP2 gene result in ectopic superficial cortical neurons stalled in lower cortical layers and alterations to the balance of cortical excitation and inhibition. However, the broader circuit-level implications of these f

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16

Friedman, J. I., T. Vrijenhoek, S. Markx, et al. "Erratum: CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy." Molecular Psychiatry 15, no. 11 (2010): 1121. http://dx.doi.org/10.1038/mp.2010.20.

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17

Zare, Sahar, Farhad Mashayekhi, and Elham Bidabadi. "The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population." Journal of Clinical Neuroscience 39 (May 2017): 189–92. http://dx.doi.org/10.1016/j.jocn.2017.01.008.

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18

Karaca, Irmak, Suzan Guven Yilmaz, Melis Palamar, et al. "Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome." International Ophthalmology 39, no. 1 (2017): 167–73. http://dx.doi.org/10.1007/s10792-017-0800-3.

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19

Dennis, Emily L., Neda Jahanshad, Jeffrey D. Rudie, et al. "Altered Structural Brain Connectivity in Healthy Carriers of the Autism Risk Gene,CNTNAP2." Brain Connectivity 1, no. 6 (2011): 447–59. http://dx.doi.org/10.1089/brain.2011.0064.

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20

Jurgensen, S., and P. E. Castillo. "Selective Dysregulation of Hippocampal Inhibition in the Mouse Lacking Autism Candidate Gene CNTNAP2." Journal of Neuroscience 35, no. 43 (2015): 14681–87. http://dx.doi.org/10.1523/jneurosci.1666-15.2015.

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21

Valeeva, Elena V., Ilnur S. Sabirov, Liliya R. Safiullina, et al. "The role of the CNTNAP2 gene in the development of autism spectrum disorder." Research in Autism Spectrum Disorders 114 (June 2024): 102409. http://dx.doi.org/10.1016/j.rasd.2024.102409.

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22

Hoffman, Ellen J., Katherine J. Turner, Joseph M. Fernandez, et al. "Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2." Neuron 89, no. 4 (2016): 725–33. http://dx.doi.org/10.1016/j.neuron.2015.12.039.

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23

Shimoda, Yasushi, Hidehiro Ueda, and Kazutada Watanabe. "Involvement of Caspr2 encoded by neuropsychiatric developmental disorder-susceptibility gene CNTNAP2 in the synaptogenesis." Neuroscience Research 65 (January 2009): S99. http://dx.doi.org/10.1016/j.neures.2009.09.427.

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24

Bocharova, Anna, Kseniya Vagaitseva, Andrey Marusin, et al. "Association and Gene–Gene Interactions Study of Late-Onset Alzheimer’s Disease in the Russian Population." Genes 12, no. 10 (2021): 1647. http://dx.doi.org/10.3390/genes12101647.

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Alzheimer’s disease (AD) is a neurodegenerative disorder, and represents the most common cause of dementia. In this study, we performed several different analyses to detect loci involved in development of the late onset AD in the Russian population. DNA samples from 472 unrelated subjects were genotyped for 63 SNPs using iPLEX Assay and real-time PCR. We identified five genetic loci that were significantly associated with LOAD risk for the Russian population (TOMM40 rs2075650, APOE rs429358 and rs769449, NECTIN rs6857, APOE ε4). The results of the analysis based on comparison of the haplotype

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25

Nakabayashi, Kazuhiko, and Stephen W. Scherer. "The Human Contactin-Associated Protein-like 2 Gene (CNTNAP2) Spans over 2 Mb of DNA at Chromosome 7q35." Genomics 73, no. 1 (2001): 108–12. http://dx.doi.org/10.1006/geno.2001.6517.

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26

Zhu, Bi, Chuansheng Chen, Gui Xue, et al. "Associations between the CNTNAP2 gene, dorsolateral prefrontal cortex, and cognitive performance on the Stroop task." Neuroscience 343 (February 2017): 21–29. http://dx.doi.org/10.1016/j.neuroscience.2016.11.021.

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27

Ross, Lars A., Victor A. Del Bene, Sophie Molholm, et al. "Common variation in the autism risk gene CNTNAP2, brain structural connectivity and multisensory speech integration." Brain and Language 174 (November 2017): 50–60. http://dx.doi.org/10.1016/j.bandl.2017.07.005.

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28

Werling, Anna Maria, Elise Bobrowski, Regina Taurines, et al. "CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches." Journal of Neural Transmission 123, no. 3 (2015): 353–63. http://dx.doi.org/10.1007/s00702-015-1458-5.

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29

Gu, Huaiting, Fang Hou, Lingfei Liu, et al. "Genetic variants in the CNTNAP2 gene are associated with gender differences among dyslexic children in China." EBioMedicine 34 (August 2018): 165–70. http://dx.doi.org/10.1016/j.ebiom.2018.07.007.

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30

Chien, Yi-Ling, Yu-Chieh Chen, and Susan Shur-Fen Gau. "Altered cingulate structures and the associations with social awareness deficits and CNTNAP2 gene in autism spectrum disorder." NeuroImage: Clinical 31 (2021): 102729. http://dx.doi.org/10.1016/j.nicl.2021.102729.

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31

Scott-Van Zeeland, A. A., B. S. Abrahams, A. I. Alvarez-Retuerto, et al. "Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2." Science Translational Medicine 2, no. 56 (2010): 56ra80. http://dx.doi.org/10.1126/scitranslmed.3001344.

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32

Liska, Adam, Alice Bertero, Ryszard Gomolka, et al. "Homozygous Loss of Autism-Risk Gene CNTNAP2 Results in Reduced Local and Long-Range Prefrontal Functional Connectivity." Cerebral Cortex 28, no. 4 (2017): 1141–53. http://dx.doi.org/10.1093/cercor/bhx022.

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33

Bai, Tongjian, Long Zhang, Xiaohui Xie, et al. "Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction." Social Cognitive and Affective Neuroscience 14, no. 12 (2019): 1297–305. http://dx.doi.org/10.1093/scan/nsaa008.

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Abstract Social deficits are features of autism and highly heritable traits. A common variant in autism-related CNTNAP2 gene, rs2710102, has been linked with social performance, but the neural substrates are largely unknown. We investigated variations in social performance and functional connectivity (static and dynamic) in the subregions of right temporoparietal junction (RTPJ), a key node of brain social network, using resting-state magnetic resonance imaging (n = 399) by genotype at rs2710102 in healthy volunteers. Social performance was evaluated using the social domain of the Autism-Spect

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34

Petrin, Aline L., Célia M. Giacheti, Luciana P. Maximino, et al. "Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case." American Journal of Medical Genetics Part A 152A, no. 12 (2010): 3164–72. http://dx.doi.org/10.1002/ajmg.a.33749.

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35

Vorn, Rany, Katie A. Edwards, James Hentig, et al. "A Pilot Study of Whole-Blood Transcriptomic Analysis to Identify Genes Associated with Repetitive Low-Level Blast Exposure in Career Breachers." Biomedicines 10, no. 3 (2022): 690. http://dx.doi.org/10.3390/biomedicines10030690.

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Repetitive low-level blast exposure is one of the major occupational health concerns among US military service members and law enforcement. This study seeks to identify gene expression using microRNA and RNA sequencing in whole-blood samples from experienced breachers and unexposed controls. We performed experimental RNA sequencing using Illumina’s HiSeq 2500 Sequencing System, and microRNA analysis using NanoString Technology nCounter miRNA expression panel in whole-blood total RNA samples from 15 experienced breachers and 14 age-, sex-, and race-matched unexposed controls. We identified 10 s

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36

Schaafsma, Sara M., Khatuna Gagnidze, Anny Reyes, et al. "Sex-specific gene–environment interactions underlying ASD-like behaviors." Proceedings of the National Academy of Sciences 114, no. 6 (2017): 1383–88. http://dx.doi.org/10.1073/pnas.1619312114.

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The male bias in the incidence of autism spectrum disorders (ASDs) is one of the most notable characteristics of this group of neurodevelopmental disorders. The etiology of this sex bias is far from known, but pivotal for understanding the etiology of ASDs in general. Here we investigate whether a “three-hit” (genetic load × environmental factor × sex) theory of autism may help explain the male predominance. We found that LPS-induced maternal immune activation caused male-specific deficits in certain social responses in the contactin-associated protein-like 2 (Cntnap2) mouse model for ASD. The

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37

Uddén, Julia, Tineke M. Snijders, Simon E. Fisher, and Peter Hagoort. "A common variant of the CNTNAP2 gene is associated with structural variation in the left superior occipital gyrus." Brain and Language 172 (September 2017): 16–21. http://dx.doi.org/10.1016/j.bandl.2016.02.003.

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38

Paduano, Francesco, Emma Colao, Sara Loddo, et al. "7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability." Genes 11, no. 5 (2020): 525. http://dx.doi.org/10.3390/genes11050525.

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Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. Array-CGH analysis revealed a ~240 kb microdeletion at the 7q35 inherited from her father, a ∼538 kb microduplication at the 15q13.3 region and a ∼178 kb microduplication at Xp22.33 region, both transmitted from her mother. Th

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Brignoni, Lucía, Mónica Cappetta, Valentina Colistro, et al. "Genomic Diversity in Sporadic Breast Cancer in a Latin American Population." Genes 11, no. 11 (2020): 1272. http://dx.doi.org/10.3390/genes11111272.

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Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been ass

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Hsu, Michelle, Mehek Dedhia, Wim E. Crusio, and Anna Delprato. "Sex differences in gene expression patterns associated with the APOE4 allele." F1000Research 8 (July 23, 2019): 387. http://dx.doi.org/10.12688/f1000research.18671.2.

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Background: The APOE gene encodes apolipoprotein ε (ApoE), a protein that associates with lipids to form lipoproteins that package and traffic cholesterol and lipids through the bloodstream. There are at least three different alleles of the APOE gene: APOE2, APOE3, and APOE4. The APOE4 allele increases an individual's risk for developing late-onset Alzheimer disease (AD) in a dose-dependent manner. Sex differences have been reported for AD susceptibility, age of onset, and symptom progression, with females being more affected than males. Methods: In this study, we use a systems biology approac

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Toma, Claudio, Kerrie D. Pierce, Alex D. Shaw, et al. "Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders." PLOS Genetics 14, no. 12 (2018): e1007535. http://dx.doi.org/10.1371/journal.pgen.1007535.

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Belloso, Jose M., Iben Bache, Miriam Guitart, et al. "Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome." European Journal of Human Genetics 15, no. 6 (2007): 711–13. http://dx.doi.org/10.1038/sj.ejhg.5201824.

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43

Wittekind, Dirk Alexander, Markus Scholz, Jürgen Kratzsch, et al. "Genome-wide association and transcriptome analysis suggests total serum ghrelin to be linked with GFRAL." European Journal of Endocrinology 184, no. 6 (2021): 847–56. http://dx.doi.org/10.1530/eje-20-1220.

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Objective Ghrelin is an orexigenic peptide hormone involved in the regulation of energy homeostasis, food intake and glucose metabolism. Serum levels increase anticipating a meal and fall afterwards. Underlying genetic mechanisms of the ghrelin secretion are unknown. Methods Total serum ghrelin was measured in 1501 subjects selected from the population-based LIFE-ADULT-sample after an overnight fast. A genome-wide association study (GWAS) was performed. Gene-based expression association analyses (transcriptome-wide association study (TWAS)) are statistical tests associating genetically predict

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Li, Dandan, Long Zhang, Tongjian Bai, et al. "Common variants of the autism-associated CNTNAP2 gene contribute to the modulatory effect of social function mediated by temporal cortex." Behavioural Brain Research 409 (July 2021): 113319. http://dx.doi.org/10.1016/j.bbr.2021.113319.

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Ma, Yi-Nu, Ting-Yu Xie, and Xue-Yi Chen. "Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population." Journal of Ophthalmology 2019 (May 2, 2019): 1–8. http://dx.doi.org/10.1155/2019/9687823.

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Background. Our previous data suggested that three single-nucleotide polymorphisms (SNPs), rs1048661, rs3825942, and rs2165241, of the lysyl oxidase-like 1 gene (LOXL1) are significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG). The following study investigated other SNPs that potentially effect XFS/XFG. Methods. A total of 216 Uygur patients diagnosed with XFS/XFG, and 297 Uygur volunteers were admitted to the First Affiliated Hospital at Xinjiang Medical University between January 2015 and October 2017. Blood samples were collected by venipuncture. Alleles an

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46

Uddin, Mohammad Sarowar, Atkia Azima, Md Abdul Aziz, et al. "CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case–control study combined with a meta-analysis." Human Cell 34, no. 5 (2021): 1410–23. http://dx.doi.org/10.1007/s13577-021-00546-8.

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47

Kim, Sang Yoon, Seung Min Lee, Jonghoon Shin, Ji Eun Lee, and Su Jin Kim. "Two Cases of Ocular Manifestations in Patients with Microdeletion of the Chromosome 7 Long Arm." Journal of the Korean Ophthalmological Society 62, no. 7 (2021): 1003–7. http://dx.doi.org/10.3341/jkos.2021.62.7.1003.

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Purpose: We report ocular manifestations in two patients with 7q microdeletion. Case summary: (Case 1) A 62-day-old male infant was admitted to the ophthalmology outpatient department for ocular examination after being diagnosed with microdeletion of chromosome seven (7q36.2q36.3 deletion) in DNA microarray comparative genomic hybridization (DNA microarray CGH) and fluorescence in situ hybridization (FISH) tests. Fundus examination showed optic disc hypoplasia in both eyes and retinopathy of prematurity, accompanied by retinal hemorrhage in his right eye. Around the age of 24 months, the patie

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48

Lewis-Smith, David, Donald Craig, and Rhys Thomas. "094 The adult phenotypes of paediatric-onset genetic epilepsies." Journal of Neurology, Neurosurgery & Psychiatry 90, no. 12 (2019): A29.3—A29. http://dx.doi.org/10.1136/jnnp-2019-abn-2.97.

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Genetic discovery in epilepsies has focussed on cohorts of children who typically have severe and intractable seizures. Now that genetic testing for adults with epilepsy has entered routine clinical practice, we are able to learn about the developmental trajectory of these epilepsies.Undiagnosed patients with epilepsy and intellectual disability were offered gene panel testing in an NHS epilepsy clinic. We present the clinical features of eight adults found to carry variants in paediatric epilepsy genes during re-investigation. All are amongst the oldest cases described. In six cases (CHD2, CN

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Iakoubov, Leonid, Malgorzata Mossakowska, Malgorzata Szwed, and Monika Puzianowska-Kuznicka. "A Common Copy Number Variation Polymorphism in the CNTNAP2 Gene: Sexual Dimorphism in Association with Healthy Aging and Disease." Gerontology 61, no. 1 (2014): 24–31. http://dx.doi.org/10.1159/000363320.

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Maccaroni, Klizia, Elisa Balzano, Federica Mirimao, Simona Giunta, and Franca Pelliccia. "Impaired Replication Timing Promotes Tissue-Specific Expression of Common Fragile Sites." Genes 11, no. 3 (2020): 326. http://dx.doi.org/10.3390/genes11030326.

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Common fragile sites (CFSs) are particularly vulnerable regions of the genome that become visible as breaks, gaps, or constrictions on metaphase chromosomes when cells are under replicative stress. Impairment in DNA replication, late replication timing, enrichment of A/T nucleotides that tend to form secondary structures, the paucity of active or inducible replication origins, the generation of R-loops, and the collision between replication and transcription machineries on particularly long genes are some of the reported characteristics of CFSs that may contribute to their tissue-specific frag

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