Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

ABSTRACT:

Introduction

Mutations in the COL12A1 (collagen, type XII, alpha 1) gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function).

Methods

We describe an 8-year-old girl of Polish origin who presented with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation.

Results

We identified a novel, potentially pathogenic heterozygous missense COL12A1 c.8329G>C (p.Gly2777Arg) variant using a targeted sequencing panel. Patient fibroblast studies confirmed intracellular retention of the COL12A1 protein, consistent with a dom

SUBMITTER: Punetha J 

PROVIDER: S-EPMC5236000 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature