Ontology highlight
ABSTRACT:
SUBMITTER: Korvatska O
PROVIDER: S-EPMC3552624 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Korvatska O O Estes A A Munson J J Dawson G G Bekris L M LM Kohen R R Yu C-E CE Schellenberg G D GD Raskind W H WH
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 20110113 3
Linkage to 7q has been the most robust genetic finding in familial autism. A previous scan of multiplex families with autism spectrum disorders found a linkage signal of genome-wide significance at D7S530 on 7q32. We searched a candidate imprinted region at this location for genetic variants in families with positive linkage scores. Using exon resequencing, we identified three rare potentially pathogenic variants in the TSGA14 gene, which encodes a centrosomal protein. Two variants were missense ...[more]