HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.

ABSTRACT:

Objective

To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness.

Methods

Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of mutant vs wild-type allele in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva.

Results

A novel heterozygous nonsense mutation (c.1140C>A; p.Y380X) in SOX10 was identified in the affected sisters. Paternal mosaicism was suspected based on a small chromatogram peak, which was less than the heterozygous peak of the mutated allele. Consistent w

SUBMITTER: Donkervoort S 

PROVIDER: S-EPMC5432370 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature