C.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.

ABSTRACT:

Objective

To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes.

Methods

Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional consequences of detected genetic variants, urinary sepiapterin concentrations were determined by high-performance liquid chromatography.

Results

A heterozygous rare nonsynonymous variant in exon 1 of sepiapterin reductase (SPR, c.207C>G, p.Asp69Glu) was found in all affected family members. Urinary concentrations of sepiapterin were above the standard of

SUBMITTER: Shalash AS 

PROVIDER: S-EPMC5682855 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature