Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

ABSTRACT:

Objective

To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs).

Methods

The first family comprises individuals affected by dHMN type V, which lacks the cardinal clinical feature of vocal cord paralysis characteristic of dHMN-VII observed in the second family. Next-generation sequencing was performed on the proband of each family. Variants were annotated and filtered, initially focusing on genes associated with neuropathy. Candidate variants were further investigated and confirmed by dideoxy sequence analysis and cosegregation studies. Thorough patient phenotyping was completed, comprising clinical history, examination, and neurologic investigation.

Results

dHMNs are a heterogeneous grou

SUBMITTER: Salter CG 

PROVIDER: S-EPMC5866402 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature