Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Christian P. Schaaf, Aniko Sabo, Yasunari Sakai, Jacy Crosby, Donna Muzny, Alicia Hawes, Lora Lewis, Humeira Akbar, Robin Varghese, Eric Boerwinkle, Richard A. Gibbs, Huda Y. Zoghbi

研究成果: ジャーナルへの寄稿学術誌査読

130 被引用数 (Scopus)

抄録

Autism spectrum disorders (ASDs) are a heterogeneous group of neuro-developmental disorders. While significant progress has been made in the identification of genes and copy number variants associated with syndromic autism, little is known to date about the etiology of idiopathic non-syndromic autism. Sanger sequencing of 21 known autism susceptibility genes in 339 individuals with high-functioning, idiopathic ASD revealed de novo mutations in at least one of these genes in 6 of 339 probands (1.8%). Additionally, multiple events of oligogenic heterozygosity were seen, affecting 23 of 339 probands (6.8%). Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, TSC1, TSC2 and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (P < 0.01) lower rate, suggesting oligogenic heterozygosity as a new potential mechanism in the pathogenesis of ASDs.

本文言語英語
論文番号ddr243
ページ(範囲)3366-3375
ページ数10
ジャーナルHuman molecular genetics
20
17
DOI
出版ステータス出版済み - 9月 2011

!!!All Science Journal Classification (ASJC) codes

  • 分子生物学
  • 遺伝学
  • 遺伝学(臨床)

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