Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing

Introduction: 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.