Ontology highlight
ABSTRACT:
SUBMITTER: Onat OE
PROVIDER: S-EPMC3573203 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20120815 3
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity mapping revealed that several shared homozygous regions, including chromosome 13q12. Targeted next-generation sequencing of an affected individual followed by segregation analysis, population screening and prediction approaches revealed a novel missense variant, p.I376M, i ...[more]