Please use this identifier to cite or link to this item: https://doi.org/10.1093/hmg/6.5.747
Title: Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain
Authors: Allamand, V
Sunada, Y
Salih, M.A.M
Straub, V
Ozo, C.O
Al-Turaiki, M.H.S
Akbar, M
Kolo, T
Colognato, H
Zhang, X
Sorokin, L.M
Yurchenco, P.D
Tryggvason, K 
Campbell, K.P
Keywords: dystrophin
laminin
alpha chain
article
Becker muscular dystrophy
case report
consanguinity
controlled study
disease severity
female
gene deletion
human
human tissue
immunohistochemistry
male
muscular dystrophy
phenotype
preschool child
priority journal
protein domain
RNA splicing
Iva
Issue Date: 1997
Publisher: Oxford University Press
Citation: Allamand, V, Sunada, Y, Salih, M.A.M, Straub, V, Ozo, C.O, Al-Turaiki, M.H.S, Akbar, M, Kolo, T, Colognato, H, Zhang, X, Sorokin, L.M, Yurchenco, P.D, Tryggvason, K, Campbell, K.P (1997). Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain. Human Molecular Genetics 6 (5) : 747-752. ScholarBank@NUS Repository. https://doi.org/10.1093/hmg/6.5.747
Rights: Attribution 4.0 International
Abstract: Congenital muscular dystrophy (CMD) is a group of clinically and genetically heterogeneous disorders inherited in an autosomal recessive mode. The α2-chain of laminin-2 (previously called merosin) has been shown by immunohistochemical and genetic analyses to be implicated in the pathogenesis of the 'classic' form of CMD. In the 'merosin-deficient' subgroup, which represents about half of the cases, more definite evidence of the involvement of the laminin α2-chain has recently been reported with the identification of mutations in the gene encoding the α2-chain of laminin 2 (LAMA2) in CMD patients. Here we report on two siblings from a consanguineous family expressing an internally deleted laminin α2-chain as a result of a splice site mutation in the LAMA2 gene which causes the splicing of exon 25. The predicted protein lacks 63 amino acids in domain IVa which forms a globular structure on the short arm of the α2-chain. Interestingly, these patients appear mildly affected compared to others who completely lack this protein. This situation presents a striking analogy with Becker muscular dystrophy, where in-frame deletions in the dystrophin gene result in the expression of a semi-functional protein and lead to a mild phenotype.
Source Title: Human Molecular Genetics
URI: https://scholarbank.nus.edu.sg/handle/10635/181143
ISSN: 09646906
DOI: 10.1093/hmg/6.5.747
Rights: Attribution 4.0 International
Appears in Collections:Elements
Staff Publications

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
10_1093_hmg_6_5_747.pdf203.49 kBAdobe PDF

OPEN

NoneView/Download

SCOPUSTM   
Citations

107
checked on Apr 19, 2021

Page view(s)

42
checked on Apr 15, 2021

Google ScholarTM

Check

Altmetric


This item is licensed under a Creative Commons License Creative Commons