ADCY5 mutations are another cause of benign hereditary chorea.

ABSTRACT:

Objective

To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC).

Methods

We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diagnosis of BHC was based on the presence of a childhood-onset movement disorder, predominantly characterized by chorea and no other major neurologic features. ADCY5 analysis was performed by whole-exome sequencing or Sanger sequencing. ADCY5 and NKX2-1 expression during brain development and in the adult human brain was assessed using microarray analysis of postmortem brain tissue.

Results

The c.1252C>T; p.R418W mutation was identified in 2 cases (1 familial, 1 sporadic). The familial case inherited the mutation from the affec

SUBMITTER: Mencacci NE 

PROVIDER: S-EPMC4501937 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature