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Calpainopathy - A survey of mutations and polymorphisms

Lookup NU author(s): Dr Robert Pogue, Dr Louise VB Anderson, Emerita Professor Katherine Bushby

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Abstract

Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This report represents a compilation of the mutations and variants identified so far in this gene. To date, 97 distinct pathogenic calpain 3 mutations have been identified (4 nonsense mutations, 32 deletions/insertions 8 splice-site mutations,and 53 missense mutations), 56 of which have not been described previously, together with 12 polymorphisms and 5 non-classified variants. The mutations are distributed along the entire length of the CAPN3 gene. Thus far, most mutations identified represent private variants, although particular mutations have been found more frequently. Knowledge of the mutation spectrum occurring in the CAPN3 gene may contribute significantly to structure/ function and pathogenesis studies. It may also help in the design of efficient mutation-screening strategies: for calpainopathies.

Publication metadata

Author(s): Anderson LVB; Bushby K; Pogue R; Richard I; Roudaut C; Saenz A; Grimbergen JEMA; Beley C; Cobo AM; de Diego C; Eymard B; Gallano P; Ginjaar HB; Lasa A; Pollitt C; Topaloglu H; Urtizberea JA; de Visser M; van der Kooi A; Bakker E; de Munain AL; Fardeau M; Beckmann JS

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 1999

Volume: 64

Issue: 6

Pages: 1524-1540

Print publication date: 01/06/1999

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1086/302426

DOI: 10.1086/302426

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