دورية أكاديمية
أعرض في EDS

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

التفاصيل البيبلوغرافية
العنوان: TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
المؤلفون: Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR
المصدر: American journal of human genetics [Am J Hum Genet] 2013 Aug 08; Vol. 93 (2), pp. 197-210. Date of Electronic Publication: 2013 Jun 27.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: 2008- : [Cambridge, MA] : Cell Press
Original Publication: Baltimore, American Society of Human Genetics.
مواضيع طبية MeSH: Base Sequence* , Genetic Predisposition to Disease* , Sequence Deletion*, Aging, Premature/*genetics , Language Development Disorders/*genetics , Leukoencephalopathies/*genetics , Tetraspanins/*genetics, Age of Onset ; Aging, Premature/complications ; Aging, Premature/ethnology ; Aging, Premature/pathology ; Asian People ; Brain/metabolism ; Brain/pathology ; Child ; Child, Preschool ; Chromosomes, Human, Pair 2 ; Exons ; Female ; Humans ; Language Development Disorders/complications ; Language Development Disorders/ethnology ; Language Development Disorders/pathology ; Leukoencephalopathies/complications ; Leukoencephalopathies/ethnology ; Leukoencephalopathies/pathology ; Magnetic Resonance Imaging ; Male ; Molecular Sequence Data ; Pedigree ; Sequence Analysis, DNA
مستخلص: White matter hyperintensities (WMHs) of the brain are important markers of aging and small-vessel disease. WMHs are rare in healthy children and, when observed, often occur with comorbid neuroinflammatory or vasculitic processes. Here, we describe a complex 4 kb deletion in 2q36.3 that segregates with early childhood communication disorders and WMH in 15 unrelated families predominantly from Southeast Asia. The premature brain aging phenotype with punctate and multifocal WMHs was observed in ~70% of young carrier parents who underwent brain MRI. The complex deletion removes the penultimate exon 3 of TM4SF20, a gene encoding a transmembrane protein of unknown function. Minigene analysis showed that the resultant net loss of an exon introduces a premature stop codon, which, in turn, leads to the generation of a stable protein that fails to target to the plasma membrane and accumulates in the cytoplasm. Finally, we report this deletion to be enriched in individuals of Vietnamese Kinh descent, with an allele frequency of about 1%, embedded in an ancestral haplotype. Our data point to a constellation of early language delay and WMH phenotypes, driven by a likely toxic mechanism of TM4SF20 truncation, and highlight the importance of understanding and managing population-specific low-frequency pathogenic alleles.
(Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
التعليقات: Erratum in: Am J Hum Genet. 2013 Aug 8;93(2):405.
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معلومات مُعتمدة: P50 MH094268 United States MH NIMH NIH HHS; P50-MH094268 United States MH NIMH NIH HHS; U54 HG006542 United States HG NHGRI NIH HHS; R01-HL091771 United States HL NHLBI NIH HHS; K08 NS062711 United States NS NINDS NIH HHS; HL-66991 United States HL NHLBI NIH HHS; P30 HD024064 United States HD NICHD NIH HHS; K23 NS078056 United States NS NINDS NIH HHS; R01-NS058529-03 United States NS NINDS NIH HHS; P30HD024064 United States HD NICHD NIH HHS; K23NS078056 United States NS NINDS NIH HHS; 089276 United Kingdom WT_ Wellcome Trust; 5K08NS062711 United States NS NINDS NIH HHS; U54 HG003273 United States HG NHGRI NIH HHS; R01 NS058529 United States NS NINDS NIH HHS; T32 GM008307 United States GM NIGMS NIH HHS; 5U54HG006542 United States HG NHGRI NIH HHS; T32 HL066991 United States HL NHLBI NIH HHS; R01 HL091771 United States HL NHLBI NIH HHS
المشرفين على المادة: 0 (TM4SF20 protein, human)
0 (Tetraspanins)
تواريخ الأحداث: Date Created: 20130702 Date Completed: 20131217 Latest Revision: 20221207
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC3738832
DOI: 10.1016/j.ajhg.2013.05.027
PMID: 23810381
قاعدة البيانات: MEDLINE
الوصف
تدمد:1537-6605
DOI:10.1016/j.ajhg.2013.05.027