Phenotypic insights into ADCY5-associated disease.

ABSTRACT:

Background

Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations.

Methods

In 5 of the 7 patients, followed over a period of 9 to 32 years, ADCY5 was sequenced by Sanger sequencing. The other 2 unrelated patients participated in studies for undiagnosed pediatric hyperkinetic movement disorders and underwent whole-exome sequencing.

Results

Five patients had the previously reported p.R418W ADCY5 mutation; we also identified two nov

SUBMITTER: Chang FC 

PROVIDER: S-EPMC4950003 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature