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Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.

التفاصيل البيبلوغرافية
العنوان: Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.
المؤلفون: Nguyen NL; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Ngoc CTB; Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam., Vu CD; Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam., Nguyen TTH; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Nguyen HH; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.
المصدر: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2020 Sep 24; Vol. 10 (10). Date of Electronic Publication: 2020 Sep 24.
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101658402 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4418 (Print) Linking ISSN: 20754418 NLM ISO Abbreviation: Diagnostics (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI AG, [2011]-
مستخلص: Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome sequencing (WES) makes it an efficient tool for obtaining a precise diagnosis without the need for immunohistochemistry. WES was performed in the two siblings and their parents, followed by prioritization of variants and validation by Sanger sequencing. Very rare variants with moderate to high predicted impact in genes associated with neuromuscular disorders were selected. We identified two pathogenic missense variants, c.778C>T (p.H260Y) and c.2987G>A (p.C996Y), in the LAMA2 gene (NM_000426.3), in the homozygous state in two siblings, and in the heterozygous state in their unaffected parents, which were confirmed by Sanger sequencing. Variant c.2987G>A has not been reported previously. These variants may lead to a change in the structure and function of laminin-α2, a member of the family of laminin-211, which is an extracellular matrix protein that functions to stabilize the basement membrane of muscle fibers during contractions. Overall, WES enabled an accurate diagnosis of both patients with LAMA2 -related muscular dystrophy and expanded the spectrum of missense variants in LAMA2 .
References: Intern Med. 2018 Mar 15;57(6):877-882. (PMID: 29225264)
Lancet. 2019 Nov 30;394(10213):2025-2038. (PMID: 31789220)
Exp Ther Med. 2013 Nov;6(5):1233-1236. (PMID: 24223650)
Biomed Rep. 2020 Feb;12(2):46-50. (PMID: 31929873)
J Hum Genet. 2006;51(11):915-926. (PMID: 16969582)
Neurology. 2017 May 23;88(21):e199-e203. (PMID: 28533353)
Neuromuscul Disord. 2018 Dec;28(12):1031-1063. (PMID: 30472062)
J Neuromuscul Dis. 2015 Sep 2;2(3):229-240. (PMID: 27858741)
Hum Genomics. 2018 Jul 3;12(1):34. (PMID: 29970176)
J Cell Biol. 2007 Mar 26;176(7):979-93. (PMID: 17389231)
J Med Genet. 2005 Dec;42(12):907-12. (PMID: 15894594)
Front Mol Neurosci. 2019 Dec 13;12:305. (PMID: 31920536)
Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. (PMID: 17923109)
Hum Mutat. 2018 Oct;39(10):1314-1337. (PMID: 30055037)
Am J Hum Genet. 1996 Jun;58(6):1177-84. (PMID: 8651294)
Neuromuscul Disord. 2020 Jun;30(6):457-471. (PMID: 32444167)
Curr Opin Neurol. 2016 Oct;29(5):527-36. (PMID: 27588584)
Clin Chim Acta. 2020 Sep;508:9-15. (PMID: 32387637)
Eur J Hum Genet. 2002 Feb;10(2):91-4. (PMID: 11938437)
Semin Pediatr Neurol. 2011 Dec;18(4):277-88. (PMID: 22172424)
Skelet Muscle. 2011 Mar 01;1(1):9. (PMID: 21798088)
Neuromuscul Disord. 2019 Dec;29(12):980-1018. (PMID: 31791870)
Ann Neurol. 2016 Jul;80(1):101-11. (PMID: 27159402)
Neuroepidemiology. 2005;25(4):205-11. (PMID: 16210862)
Eur J Med Genet. 2020 Apr;63(4):103845. (PMID: 31953240)
J Hum Genet. 2017 Feb;62(2):243-252. (PMID: 27708273)
Neurology. 2015 Mar 3;84(9):904-11. (PMID: 25653289)
Clin Genet. 2015 Mar;87(3):233-43. (PMID: 24611677)
J Cell Physiol. 2019 Jun;234(6):7874-7884. (PMID: 30536378)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
Neuromuscul Disord. 2017 Sep;27(9):793-803. (PMID: 28688748)
Neuromuscul Disord. 2010 Apr;20(4):241-50. (PMID: 20207543)
J Appl Genet. 2017 Feb;58(1):87-91. (PMID: 27585670)
Iran Biomed J. 2018 Apr 30;22(6):408-14. (PMID: 29707938)
Ital J Pediatr. 2016 Aug 31;42(1):78. (PMID: 27576556)
Neuromuscul Disord. 2019 May;29(5):376-380. (PMID: 31040037)
Neuromuscul Disord. 2014 Apr;24(4):289-311. (PMID: 24581957)
Clin Neuropathol. 2019 May/Jun;38(3):100-108. (PMID: 30900984)
Front Genet. 2018 Feb 13;9:43. (PMID: 29487616)
Lancet. 2013 Mar 9;381(9869):845-60. (PMID: 23465426)
Muscle Nerve. 2000 Oct;23(10):1456-71. (PMID: 11003781)
Muscle Nerve. 2020 Apr;61(4):436-448. (PMID: 31840275)
Clin Genet. 2019 Sep;96(3):207-215. (PMID: 31066047)
JAMA Neurol. 2015 Dec;72(12):1424-32. (PMID: 26436962)
Muscle Nerve. 2015 Oct;52(4):547-53. (PMID: 25663498)
Neuromuscul Disord. 2006 Jul;16(7):446-8. (PMID: 16701995)
معلومات مُعتمدة: GUST.STS.ĐT2017-SH02 Graduate University of Science and Technology, Vietnam Academic of Science and Technology
فهرسة مساهمة: Keywords: A; LAMA2 variants; LAMA2-related muscular dystrophy; T; Vietnamese; WES; c.2987G> c.778C>
تواريخ الأحداث: Date Created: 20200929 Latest Revision: 20201031
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC7598670
DOI: 10.3390/diagnostics10100741
PMID: 32987775
قاعدة البيانات: MEDLINE
الوصف
تدمد:2075-4418
DOI:10.3390/diagnostics10100741