A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

ABSTRACT:

Background

Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. The condition has been classified into cerebellar ataxia, mental retardation and disequilibrium syndrome types 1 (CAMRQ1), 2 (CAMRQ2) and 3 (CAMRQ3) and attributed to mutations in VLDLR, CA8 and WDR81 genes, respectively. Quadrupedal locomotion in this syndrome has been reported in association with mutations in all three genes.

Methods

SNP mapping and candidate gene sequencing in one consanguineous Omani family from the United Arab Emirates with cerebellar hypoplasia, moderate mental retardation, delayed ambulation and truncal ataxia was used to identify the mutation. In a second unrelated consanguineous Oman

SUBMITTER: Ali BR 

PROVIDER: S-EPMC3495048 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature