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Autosomal recessive Emery–Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing
Author(s) -
JimenezEscrig Adriano,
Gobernado Isabel,
GarciaVillanueva Mercedes,
SanchezHerranz Antonio
Publication year - 2012
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.22324
Subject(s) - exome sequencing , genetics , frameshift mutation , muscular dystrophy , lmna , exome , biology , limb girdle muscular dystrophy , congenital muscular dystrophy , proband , exon , mutation , gene
The aim of this study is to describe a new mutation in the LMNA gene diagnosed by whole exome sequencing. Methods: A two‐generation kindred with recessive limb‐girdle muscular dystrophy was evaluated by exome sequencing of the proband's DNA. Results: Exome sequencing disclosed 194,618 variants (170,196 SNPs, 8482 MNPs, 7466 insertions, 8307 deletions, and 167 mixed combinations); 71,328 were homozygotic and 123,290 were heterozygotic, with 11,753 non‐synonymous, stop‐gain, stop‐loss, or frameshift mutations occurring in the coding region or nearby intronic region. The cross‐referencing of these mutations in candidate genes for muscular dystrophy showed a homozygote mutation c.G674A in exon 4 of LMNA causing a protein change R225Q in an arginine conserved from human to Xenopus tropicalis and in lamin B1. Conclusions: This technique will be preferred for studying patients with muscular dystrophy in the coming years. Muscle Nerve, 2012