期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
卷 156B, 期 3, 页码 303-311出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.b.31162
关键词
autism spectrum disorders; chromosome 7q; TSGA14 gene; RNA splicing; centrosome
资金
- National Institute of Child Health and Human Development [U19HD34565, P50HD066782, P50HD055782, R01HD-55741]
- National Institute of Mental Health [U54MH066399]
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 mutations (c.664C>G; p. P206A and c.766T>G; p.C240G) that changed conserved residues in the same protein domain; the third variant (c.192+5G>A) altered splicing, which resulted in a protein with an internal deletion of 16 residues and a G33D substitution. These rare TSGA14 variants are enriched in the affected subjects (6/348 patients versus 2/670 controls, Fisher's exact two tailed P=0.022). This is the first report of a possible link of a gene with a centrosomal function with familial autism. (C) 2011 Wiley-Liss, Inc.
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