Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

ABSTRACT:

Background

Dystonia, cerebellar atrophy, and cardiomyopathy constitute a rare association.

Methods

We used homozygosity mapping and whole exome sequencing to determine the mutation, western blot and immunolabelling on cultured fibroblasts to demonstrate the lower expression and the mislocalization of the protein.

Results

We report on a boy born from consanguineous healthy parents, who presented at three years of age with rapidly progressing dystonia, progressive cerebellar atrophy, and dilated cardiomyopathy. We identified regions of homozygosity and performed whole exome sequencing that revealed a homozygous missense mutation in TOR1AIP1. The mutation, absent in controls, results in a change of a highly conserved glutamic acid to alanine. TOR1AIP1 encodes lamina-asso

SUBMITTER: Dorboz I 

PROVIDER: S-EPMC4302636 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature