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Journal articles on the topic 'Variable penetrance'

Author: Grafiati

Published: 4 June 2021

Last updated: 7 February 2022

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1

Semsarian, Christopher, and Caitlin R. Semsarian. "Variable Penetrance in Hypertrophic Cardiomyopathy." Journal of the American College of Cardiology 76, no. 5 (2020): 560–62. http://dx.doi.org/10.1016/j.jacc.2020.06.023.

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2

Wu, Jiang I., Rashmi Rajendra, Julius C. Barsi, et al. "Targeted disruption ofMib2 causes exencephaly with a variable penetrance." genesis 45, no. 11 (2007): 722–27. http://dx.doi.org/10.1002/dvg.20349.

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3

Li, Jianping, Oanh T. Tran, T. Blaine Crowley, et al. "Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia." JAMA Psychiatry 78, no. 8 (2021): 911. http://dx.doi.org/10.1001/jamapsychiatry.2021.0762.

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4

Barros, José, Teresa Coelho, Luísa Lobato, and Alda Sousa. "Unusual phenotypic variability within the same family: Variable penetrance and variable clinical expression." Neuromuscular Disorders 6 (February 1996): S39. http://dx.doi.org/10.1016/0960-8966(96)88863-8.

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5

Aigner, L., G. Uyanik, S. Couillard-Despres, et al. "Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders." Neurology 60, no. 2 (2003): 329–32. http://dx.doi.org/10.1212/01.wnl.0000042091.90361.d2.

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6

Mandola, Amarilla B., and Nigel Sharfe. "Novel heterozygous NFKB1 mutation—variable penetrance in a family cohort." LymphoSign Journal 6, no. 3 (2019): 95–105. http://dx.doi.org/10.14785/lymphosign-2019-0010.

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Background: Common variable immunodeficiency (CVID) is a term used to define a heterogeneous group of patients who commonly have hypogammaglobulinemia and variable degrees of modest T cell dysfunction. Recent advances made in next generation sequencing technologies have accelerated the identification of CVID disease-causing genes, including NFKB1, a component of the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) pathway. Objective: We sought to identify the genetic defect in a 3-generation family of patients with CVID who presented with cytopenias, eczema, and recurrent

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7

Robinson, R. L., D. Carpenter, P. J. Halsall, et al. "Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility." British Journal of Anaesthesia 103, no. 2 (2009): 220–25. http://dx.doi.org/10.1093/bja/aep108.

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8

Ahluwalia, Jasmine K., Manoj Hariharan, Rhishikesh Bargaje, Beena Pillai, and Vani Brahmachari. "Incomplete penetrance and variable expressivity: is there a microRNA connection?" BioEssays 31, no. 9 (2009): 981–92. http://dx.doi.org/10.1002/bies.200900066.

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9

Parton, Matthew J., Peter M. Andersen, Wendy J. Broom, and Christopher E. Shaw. "Compound heterozygosity and variable penetrance inSOD1 amyotrophic lateral sclerosis pedigrees." Annals of Neurology 50, no. 4 (2001): 553. http://dx.doi.org/10.1002/ana.1151.

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10

RUVINSKY, A. O. "Inheritance of dominant genes with variable penetrance: An evolutionary aspect." Journal of Animal Breeding and Genetics 105, no. 1-6 (1988): 103–11. http://dx.doi.org/10.1111/j.1439-0388.1988.tb00279.x.

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11

Jain, Roshan A., Marc A. Wolman, Lauren A. Schmidt, Harold A. Burgess, and Michael Granato. "Molecular-Genetic Mapping of Zebrafish Mutants with Variable Phenotypic Penetrance." PLoS ONE 6, no. 10 (2011): e26510. http://dx.doi.org/10.1371/journal.pone.0026510.

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12

Green, David J., Shalaw R. Sallah, Jamie M. Ellingford, Simon C. Lovell, and Panagiotis I. Sergouniotis. "Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders." Genes 11, no. 2 (2020): 179. http://dx.doi.org/10.3390/genes11020179.

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Inherited eye disorders (IED) are a heterogeneous group of Mendelian conditions that are associated with visual impairment. Although these disorders often exhibit incomplete penetrance and variable expressivity, the scale and mechanisms of these phenomena remain largely unknown. Here, we utilize publicly-available genomic and transcriptomic datasets to gain insights into variable penetrance in IED. Variants in a curated set of 340 IED-implicated genes were extracted from the Human Gene Mutation Database (HGMD) 2019.1 and cross-checked with the Genome Aggregation Database (gnomAD) 2.1 control-o

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13

Wilson, Robert, Stefan H. Geyer, Lukas Reissig, et al. "Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice." Wellcome Open Research 1 (November 15, 2016): 1. http://dx.doi.org/10.12688/wellcomeopenres.9899.1.

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Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in normal embryonic development and establishing any correlates amongst human congenital abnormalities. Methods: Here we present results gathered to date in the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme, cataloguing

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14

Wilson, Robert, Stefan H. Geyer, Lukas Reissig, et al. "Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice." Wellcome Open Research 1 (February 27, 2017): 1. http://dx.doi.org/10.12688/wellcomeopenres.9899.2.

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Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in normal embryonic development and establishing any correlates amongst human congenital abnormalities. Methods: Here we present results gathered to date in the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme, cataloguing

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15

Mohun, Tim, Robert Wilson, Stefan Geyer, et al. "Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice." Mechanisms of Development 145 (July 2017): S33—S34. http://dx.doi.org/10.1016/j.mod.2017.04.039.

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16

Milewicz, Dianna M., Hua Chen, Eun-Sook Park, et al. "Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections." American Journal of Cardiology 82, no. 4 (1998): 474–79. http://dx.doi.org/10.1016/s0002-9149(98)00364-6.

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17

Kelsen, David Paul, Kasmintan A. Schrader, Raya Khanin, et al. "Variable penetrance of CDH1 mutation diffuse gastric cancer: A genomic analysis." Journal of Clinical Oncology 31, no. 15_suppl (2013): 4082. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.4082.

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4082 Background: CDH1 encodes E-cadherin; mutations (CDH1mut) increase the risk of diffuse gastric (DGC) and lobular breast cancers. Life-time risk of DGC is estimated at 80%. Current recommendations are prophylactic gastrectomy (PG) in CDH1mut carriers after age 20. Foci of DGC are found in some PG; others have none at PG, and some CDH1mut without PG never develop cancer. Identifying risk modifying alleles or other genomic events which increase the risk of DGC may improve understanding of DGC and may provide a biomarker for when to perform PG. Methods: For a Gastric Cancer Registry, we collec

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18

Hollingsworth, John M., David C. Miller, Stephanie Daignault, Rajal B. Shah, and Brent K. Hollenbeck. "Variable Penetrance of a Consensus Classification Scheme for Renal Cell Carcinoma." Urology 69, no. 3 (2007): 452–56. http://dx.doi.org/10.1016/j.urology.2006.11.004.

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19

Croxen, R., C. Hatton, C. Shelley, et al. "Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes." Neurology 59, no. 2 (2002): 162–68. http://dx.doi.org/10.1212/wnl.59.2.162.

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20

Feldman, George J., Christopher L. Peters, Jill A. Erickson, Bryan A. Hozack, Ranna Jaraha, and Javad Parvizi. "Variable Expression and Incomplete Penetrance of Developmental Dysplasia of the Hip." Journal of Arthroplasty 27, no. 4 (2012): 527–32. http://dx.doi.org/10.1016/j.arth.2011.10.016.

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21

Giudicessi, John R., and Michael J. Ackerman. "Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes." Translational Research 161, no. 1 (2013): 1–14. http://dx.doi.org/10.1016/j.trsl.2012.08.005.

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22

Hollingsworth, John M., David C. Miller, Stephanie Daignault, Rajal B. Shah, and Brent K. Hollenbeck. "649: Variable Penetrance of a Consensus Classification Scheme for Renal Cell Carcinoma." Journal of Urology 177, no. 4S (2007): 218. http://dx.doi.org/10.1016/s0022-5347(18)30889-9.

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23

Benson, D. Woodrow, Angela Sharkey, Diane Fatkin, et al. "Reduced Penetrance, Variable Expressivity, and Genetic Heterogeneity of Familial Atrial Septal Defects." Circulation 97, no. 20 (1998): 2043–48. http://dx.doi.org/10.1161/01.cir.97.20.2043.

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24

Güler, Başak, Sevtap H. Kılıç, and Mustafa Y. Kızıltan. "Variable genetic penetrance of myotonic dystrophy following the diagnosis of idiopathic polyhydramnios." International Journal of Gynecology & Obstetrics 134, no. 1 (2016): 103. http://dx.doi.org/10.1016/j.ijgo.2016.01.004.

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25

Coll, Monica, Alexandra Pérez-Serra, Jesus Mates, et al. "Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death." Biology 7, no. 1 (2017): 3. http://dx.doi.org/10.3390/biology7010003.

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26

Lee, Hsiang-I., and Michael J. Havey. "Variable Penetrance among Different Sources of the Male Fertility Restoration Allele of Onion." HortScience 55, no. 4 (2020): 543–46. http://dx.doi.org/10.21273/hortsci14709-19.

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Hybrid onion (Allium cepa) seed is produced using cytoplasmic male sterility (CMS). For the most commonly used source of onion CMS, male fertile plants possess male sterile (S) cytoplasm and dominant allele(s) at one nuclear male fertility locus (Ms). Because male fertility restoration is not necessary for bulb production, it is desirable to purge dominant alleles at Ms from populations and breeding lines to facilitate the development of male sterile inbreds for hybrid production. In this research, we used molecular markers to establish the cytoplasms and genotypes at Ms in progenies from test

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27

Suri, Fatemeh, Shahin Yazdani, Mehrnaz Narooie-Nejhad, et al. "Variable Expressivity and High Penetrance of CYP1B1 Mutations Associated with Primary Congenital Glaucoma." Ophthalmology 116, no. 11 (2009): 2101–9. http://dx.doi.org/10.1016/j.ophtha.2009.04.045.

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28

Kulkarni, Ketan, Sunil Desai, Paul Grundy, and Consolato Sergi. "Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance." Journal of Pediatric Surgery 47, no. 12 (2012): 2312–15. http://dx.doi.org/10.1016/j.jpedsurg.2012.09.046.

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29

Fryns, J. P. "Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family." Journal of Medical Genetics 32, no. 4 (1995): 326. http://dx.doi.org/10.1136/jmg.32.4.326.

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30

Carty, Sally E., Audrey K. Helm, Janet A. Amico, et al. "The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1." Surgery 124, no. 6 (1998): 1106–14. http://dx.doi.org/10.1067/msy.1998.93107.

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31

Borrmann, A., and W. Arnold. "Non-syndromal round window atresia: an autosomal dominant genetic disorder with variable penetrance?" European Archives of Oto-Rhino-Laryngology 264, no. 9 (2007): 1103–8. http://dx.doi.org/10.1007/s00405-007-0305-1.

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32

Eichers, Erica R., Muhammad M. Abd-El-Barr, Richard Paylor, et al. "Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity." Human Genetics 120, no. 2 (2006): 211–26. http://dx.doi.org/10.1007/s00439-006-0197-y.

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33

Gaspar, I. M., and A. Gaspar. "Variable expression and penetrance in Portuguese families with Familial Hypercholesterolemia with mild phenotype." Atherosclerosis Supplements 36 (March 2019): 28–30. http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.006.

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34

Dickerman, Rob D., and Anders Cohen. "Subependymal giant cell astrocytoma and concordant expression in a disease of variable penetrance." Neurosurgical Review 28, no. 4 (2005): 335–36. http://dx.doi.org/10.1007/s10143-005-0409-2.

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35

Kuehn, Hye Sun, Julie E. Niemela, Karthik Sreedhara, et al. "Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype." Blood 130, no. 13 (2017): 1553–64. http://dx.doi.org/10.1182/blood-2017-05-782177.

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Key Points NFKB2 GOF mutations are associated with CID without endocrine or ectodermal manifestations. As most autosomal-dominant primary immunodeficiencies, NFKB2 GOF changes have incomplete penetrance and variable expressivity.

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36

Xu, Ning, Yu Qin, Richard H. Reindollar, Sandra P. T. Tho, Paul G. McDonough, and Lawrence C. Layman. "A Mutation in the Fibroblast Growth Factor Receptor 1 Gene Causes Fully Penetrant Normosmic Isolated Hypogonadotropic Hypogonadism." Journal of Clinical Endocrinology & Metabolism 92, no. 3 (2007): 1155–58. http://dx.doi.org/10.1210/jc.2006-1183.

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Abstract Context: Kallmann syndrome (KS) consists of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia/hyposmia. Currently, the fibroblast growth factor receptor 1 (FGFR1) gene is the only known autosomal dominant cause of KS, which is also associated with synkinesia, midfacial defects, and dental agenesis. Objective: Mutations in FGFR1 typically demonstrate reduced penetrance, variable expressivity, and until recently have been exclusively identified in families with anosmia. The purpose of this study was to determine whether FGFR1 mutations were present in a unique family with autos

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37

Germeshausen, Manuela, Phil Ancliff, Jaime Estrada, et al. "MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia." Blood Advances 2, no. 6 (2018): 586–96. http://dx.doi.org/10.1182/bloodadvances.2018016501.

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Key Points Germ line mutations in MECOM cause a heterogeneous bone marrow failure syndrome with congenital hypomegakaryocytic thrombocytopenia. MECOM-associated syndrome includes various organ malformations with variable penetrance, including radioulnar synostosis.

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38

Camilleri, S., C. M. Lewis, and F. McDonald. "Ectopic Maxillary Canines: Segregation Analysis and a Twin Study." Journal of Dental Research 87, no. 6 (2008): 580–83. http://dx.doi.org/10.1177/154405910808700606.

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The etiology of ectopic canines is controversial, with opinion divided as to a genetic or environmental mechanism. This study addressed the hypothesis that genetic factors play a role in the etiology of ectopic maxillary canines. Sixty-three probands were identified, and information on the dental status of 395 relatives was determined. Pedigrees were constructed and the Relative Risk calculated. Complex segregation analysis was carried out by means of the Pedigree Analysis Package. The best mathematical model obtained was a single dominant gene with autosomal transmission, incomplete penetranc

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39

Grønhøj Larsen, Christian, Mette Gyldenløve, Aia Elise Jønch, Birgitte Charabi, and Zeynep Tümer. "A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance." Case Reports in Otolaryngology 2015 (2015): 1–3. http://dx.doi.org/10.1155/2015/683938.

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Idiopathic facial palsy (IFP), also known as Bell’s palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene.

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40

Al Seraihi, Ahad, Ana Rio-Machin, Kiran Tawana, et al. "Variable Penetrance Is Linked with Monoallelic Gene Expression in Inherited GATA2-Mutated MDS/AML." Blood 128, no. 22 (2016): 3916. http://dx.doi.org/10.1182/blood.v128.22.3916.3916.

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Abstract Background : While myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are considered sporadic hematopoietic stem cell clonal disorders, there are rare occurrences of familial cases (<5%) where two or more individuals within the same family are affected. These high-risk examples are characterised by wide variations in the age of onset, disease latency and outcome between and within families, making their investigation, follow-up and treatment all the more challenging.To date, germline mutations in 11 disease genes have been described, with mutations in the myeloid trans

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41

Koty, P. P., E. Pegoraro, G. Hobson, et al. "Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect." Neurology 47, no. 4 (1996): 963–68. http://dx.doi.org/10.1212/wnl.47.4.963.

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42

Čiuladaitė, Živilė, Jūratė Kasnauskienė, Loreta Cimbalistienė, Eglė Preikšaitienė, Philippos C. Patsalis, and Vaidutis Kučinskas. "Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity." Journal of Applied Genetics 52, no. 4 (2011): 443–49. http://dx.doi.org/10.1007/s13353-011-0063-z.

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43

Martin, Roger, Athel Hockey, Ian Walpole, and Jack Goldblatt. "Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W." Human Mutation 12, no. 1 (1998): 71. http://dx.doi.org/10.1002/(sici)1098-1004(1998)12:1<71::aid-humu14>3.0.co;2-a.

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44

Potuijt, Jacob W. P., Jeannette Hoogeboom, Esther de Graaff, Christianne A. van Nieuwenhoven, and Robert Jan H. Galjaard. "Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes." Journal of Medical Genetics 57, no. 10 (2020): 660–63. http://dx.doi.org/10.1136/jmedgenet-2019-106685.

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BackgroundThe of zone of polarizing activity regulatory sequence (ZRS) is a regulatory element residing in intron 5 of LMBR1 and regulates Sonic Hedgehog expression in the limb bud. Variants in the ZRS are generally fully penetrant and can cause triphalangeal thumb (TPT) and polydactyly in affected families.ObjectiveIn this report, we describe two families with mild phenotypical presentation.MethodsWe performed a field study for clinical evaluation and sequenced the ZRS for variantsusing Sanger sequencing.ResultsIn family I, a novel 165A>G variant in the ZRS (g.156584405A>G, GRCh37/Hg19)

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45

Reddy, M. K., and N. C. Subrahmanyam. "Nuclear gene induced plastid alterations in Pennisetum americanum." Genome 30, no. 2 (1988): 147–51. http://dx.doi.org/10.1139/g88-025.

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A nonlethal stripe mutant (700430) of Pennisetum americanum was crossed reciprocally with other normal inbred lines to establish its inheritance pattern. A recessive nuclear gene, when homozygous, led to defective plastid development with variable penetrance and expressivity. Intraplant and interspikelet crosses revealed maternal plastid transmission. When stripe plants were crossed with pollen from normal inbreds, green and yellow progeny were obtained; selfing stripe plants or crossing with its green sib produced yellow, stripe, and green progeny. These results suggest that in egg cells with

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46

Mansour, S. L., J. M. Goddard, and M. R. Capecchi. "Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear." Development 117, no. 1 (1993): 13–28. http://dx.doi.org/10.1242/dev.117.1.13.

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We derived mice that carry a targeted insertion of a neor gene in the int-2 (Fgf-3) proto-oncogene coding sequences. The mutation was found to be recessive and mice that were homozygous for the insertion did not often survive to adulthood. The mutant mice had defects in the development of the tail and inner ear that could be correlated with disruption of int-2 expression in the posterior primitive streak and hindbrain or otic vesicle. While the tail phenotype was 100% penetrant, we found that the inner ear phenotype had reduced penetrance and variable expressivity. The variable expressivity co

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47

Levy, Gallia, and David Ginsburg. "Getting at the Variable Expressivity of Von Willebrand Disease." Thrombosis and Haemostasis 86, no. 07 (2001): 144–48. http://dx.doi.org/10.1055/s-0037-1616211.

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SummaryVon Willebrand disease (VWD) is a heterogeneous bleeding disorder caused by abnormalities of von Willebrand factor (VWF). VWF levels vary widely in the general population, and this variation is likely to be a major factor accounting for the incomplete penetrance and variable expressivity of VWD. In addition, variation in VWF level may play an important role in determining the risk of venous thrombosis. A large component of the variation in VWF level in the general population has been shown to be attributable to genetic factors. This review will focus on the current understanding of the

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48

Deeb, Reem, Aravindhan Veerapandiyan, Rabi Tawil, and Simona Treidler. "Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation." Neurology Genetics 4, no. 6 (2018): e284. http://dx.doi.org/10.1212/nxg.0000000000000284.

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49

Lebo, Roger V., and Wayne W. Grody. "Variable Penetrance And Expressivity of The Splice Altering 5T Sequence in The Cystic Fibrosis Gene." Genetic Testing 11, no. 1 (2007): 32–44. http://dx.doi.org/10.1089/gte.2006.9997.

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50

Fabris, Antonia, Antonio Lupo, Pietro M. Ferraro, et al. "Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity." Kidney International 83, no. 2 (2013): 272–77. http://dx.doi.org/10.1038/ki.2012.378.

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