The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease.

ABSTRACT:

Background

Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects.

Methods

We summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individuals with RMND1 mutations. In addition, we reviewed all the previously published cases to determine the genotype-phenotype correlates and performed survival analysis to identify prognostic factors.

Results

We identified 14 new cases from 11 pedigrees that harbour recessive RMND1 mutations, including 6 novel variants: c.533C>A, p.(Thr178Lys); c.565C>T, p.(Gln189*); c.631G>A, p.(Val211Met); c.1303C>T, p

SUBMITTER: Ng YS 

PROVIDER: S-EPMC5264221 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature