Genetic determinants of autism in individuals with deletions of 18q

Louise O'Donnell, Bridgette Soileau, Patricia Heard, Erika Carter, Courtney Sebold, Jon Gelfond, Daniel E. Hale, Jannine D. Cody

Producción científica: Articlerevisión exhaustiva

18 Citas (Scopus)


Previous research has suggested that individuals with constitutional hemizygosity of 18q have a higher risk of autistic-like behaviors. We sought to identify genomic factors located on chromosome 18 as well as other loci that correlate with autistic behaviors. One hundred and five individuals with 18q- were assessed by high-resolution oligo aCGH and by parental ratings of behavior on the Gilliam Autism Rating Scale. Forty-five individuals (43%) had scores within the "possibly" or "very likely" categories of risk for an autism diagnosis. We searched for genetic determinants of autism by (1) identifying additional chromosome copy number changes (2) Identifying common regions of hemizygosity on 18q, and (3) evaluating four regions containing candidate genes located on 18q (MBD1, TCF4, NETO1, FBXO15). Three individuals with a "very likely" probability of autism had a captured 17p telomere in addition to the 18q deletion suggesting a possible synergy between hemizygosity of 18q and trigosity of 17p. In addition, two of the individuals with an 18q deletion and a "very likely" probability of autism rating had a duplication of the entire short arm of chromosome 18. Although no common region of hemizygosity on 18q was identified, analysis of four regions containing candidate genes suggested that individuals were significantly more likely to exhibit autistic-like behaviors if their region of hemizygosity included TCF4, NETO1, and FBXO15 than if they had any other combination of hemizygosity of the candidate genes. Taken together, these findings identify several new potential candidate genes or regions for autistic behaviors.

Idioma originalEnglish (US)
Páginas (desde-hasta)155-164
Número de páginas10
PublicaciónHuman Genetics
EstadoPublished - ago 2010

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Profundice en los temas de investigación de 'Genetic determinants of autism in individuals with deletions of 18q'. En conjunto forman una huella única.

Citar esto