Skip to main content
Journal cover image

Mutations in the TSGA14 gene in families with autism spectrum disorders.

Publication ,  Journal Article
Korvatska, O; Estes, A; Munson, J; Dawson, G; Bekris, LM; Kohen, R; Yu, C-E; Schellenberg, GD; Raskind, WH
Published in: Am J Med Genet B Neuropsychiatr Genet
April 2011

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.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Am J Med Genet B Neuropsychiatr Genet

DOI

EISSN

1552-485X

Publication Date

April 2011

Volume

156B

Issue

3

Start / End Page

303 / 311

Location

United States

Related Subject Headings

  • White People
  • RNA Splicing
  • Proteins
  • Pedigree
  • Mutation
  • Molecular Sequence Data
  • Male
  • Linkage Disequilibrium
  • Humans
  • Genetic Predisposition to Disease
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Korvatska, O., Estes, A., Munson, J., Dawson, G., Bekris, L. M., Kohen, R., … Raskind, W. H. (2011). Mutations in the TSGA14 gene in families with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet, 156B(3), 303–311. https://doi.org/10.1002/ajmg.b.31162
Korvatska, O., A. Estes, J. Munson, G. Dawson, L. M. Bekris, R. Kohen, C. -. E. Yu, G. D. Schellenberg, and W. H. Raskind. “Mutations in the TSGA14 gene in families with autism spectrum disorders.Am J Med Genet B Neuropsychiatr Genet 156B, no. 3 (April 2011): 303–11. https://doi.org/10.1002/ajmg.b.31162.
Korvatska O, Estes A, Munson J, Dawson G, Bekris LM, Kohen R, et al. Mutations in the TSGA14 gene in families with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):303–11.
Korvatska, O., et al. “Mutations in the TSGA14 gene in families with autism spectrum disorders.Am J Med Genet B Neuropsychiatr Genet, vol. 156B, no. 3, Apr. 2011, pp. 303–11. Pubmed, doi:10.1002/ajmg.b.31162.
Korvatska O, Estes A, Munson J, Dawson G, Bekris LM, Kohen R, Yu C-E, Schellenberg GD, Raskind WH. Mutations in the TSGA14 gene in families with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):303–311.
Journal cover image

Published In

Am J Med Genet B Neuropsychiatr Genet

DOI

EISSN

1552-485X

Publication Date

April 2011

Volume

156B

Issue

3

Start / End Page

303 / 311

Location

United States

Related Subject Headings

  • White People
  • RNA Splicing
  • Proteins
  • Pedigree
  • Mutation
  • Molecular Sequence Data
  • Male
  • Linkage Disequilibrium
  • Humans
  • Genetic Predisposition to Disease