How to Cite this Article: Korvatska O, Estes A, Munson J, Dawson G, Bekris LM, Kohen R, Yu C-E, Schellenberg GD, Raskind WH. 2011. Mutations in the TSGA14 Gene in Families With Autism Spectrum Disorders. Am J Med Genet Part B 156:303–311.
Mutations in the TSGA14 gene in families with autism spectrum disorders†
Version of Record online: 13 JAN 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 156, Issue 3, pages 303–311, April 2011
How to Cite
Korvatska, O., Estes, A., Munson, J., Dawson, G., Bekris, L.M., Kohen, R., Yu, C.-E., Schellenberg, G.D. and Raskind, W.H. (2011), Mutations in the TSGA14 gene in families with autism spectrum disorders. Am. J. Med. Genet., 156: 303–311. doi: 10.1002/ajmg.b.31162
- Issue online: 11 MAR 2011
- Version of Record online: 13 JAN 2011
- Manuscript Accepted: 30 NOV 2010
- Manuscript Received: 12 MAY 2010
- National Institute of Child Health and Human Development. Grant Numbers: U19HD34565, P50HD066782, P50HD055782, R01HD-55741
- National Institute of Mental Health. Grant Number: U54MH066399
- autism spectrum disorders;
- chromosome 7q;
- TSGA14 gene;
- RNA splicing;
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. © 2011 Wiley-Liss, Inc.