Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

ABSTRACT:

Objective

To describe a second hereditary sensory autonomic neuropathy type VI (HSAN-VI) family harboring 2 novel heterozygous mutations in the dystonin (DST) gene and to evaluate their effect on neurons derived from induced pluripotent stem cells (iPSC).

Methods

The family consisted of 3 affected siblings from nonconsanguineous healthy parents. All members underwent clinical and electrophysiologic evaluation and genetic analysis. Two patients underwent quantitative sensory testing (QST), cardiovascular reflexes, dynamic sweat test, and skin biopsy to evaluate somatic and autonomic cutaneous innervation and to get fibroblast cultures for developing iPSC-derived neurons.

Results

Onset occurred in the first decade, with painless and progressive mutilating distal

SUBMITTER: Manganelli F 

PROVIDER: S-EPMC5447400 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature