A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

ABSTRACT:

Background

We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome.

Methods

We used whole-exome sequencing to analyze two families affected with CAPOS syndrome, including the original family reported in 1996, and Sanger sequencing to assess familial segregation of rare variants identified in the probands and in a third, apparently unrelated family with CAPOS syndrome.

Results

We found an identical heterozygous missense mutation, c.2452G > A (p.(Glu818Lys)), in the Na⁺/K⁺ ATPase α₃(ATP1A3) gene in the proband and his affected sister and mother, but not in either unaffected maternal grandparent, in the first family. The sa

SUBMITTER: Demos MK 

PROVIDER: S-EPMC3937150 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature