Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain

Valérie Allamand, Yoshihide Sunada, Mustafa A.M. Salih, Volker Straub, C. O. Ozo, M. H.S. Al-Turaiki, Maksood Akbar, Timo Kolo, Holly Colognato, Xu Zhang, Lydia M. Sorokin, Peter D. Yurchenco, Karl Tryggvason, Kevin P. Campbell

Research output: Contribution to journalArticlepeer-review

107 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)747-752
Number of pages6
JournalHuman molecular genetics
Volume6
Issue number5
DOIs
StatePublished - May 1997

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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