Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

ABSTRACT:

Objective

To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.

Methods

Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1.

Results

We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 novel mutations. These patients are characterized by congenital or childhood-onset lower limb wasting and weakness frequently associated with cognitive impairment. The clinical sev

SUBMITTER: Scoto M 

PROVIDER: S-EPMC4336105 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature