Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

ABSTRACT: Defects of mitochondrial protein synthesis are clinically and genetically heterogeneous. We previously described a male infant who was born to consanguineous parents and who presented with severe congenital encephalopathy, peripheral neuropathy, myopathy, and lactic acidosis associated with deficiencies of multiple mitochondrial respiratory-chain enzymes and defective mitochondrial translation. In this work, we have characterized four additional affected family members, performed homozygosity mapping, and identified a homozygous splicing mutation in the splice donor site of exon 2 (c.504+1G>A) of RMND1 (required for meiotic nuclear division-1) in the affected individuals. Fibroblasts from affected individuals expressed two aberrant transcripts and had decreased wild-type mRNA and deficienc

SUBMITTER: Garcia-Diaz B 

PROVIDER: S-EPMC3484479 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature