Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

@inproceedings{Nava2012AnalysisOT,
  title={Analysis of the chromosome X exome in patients with autism spectrum disorders
identified novel candidate genes, including TMLHE},
  author={Caroline Nava and Foudil Lamari and Dominique Heron and Cyril Mignot and Agn{\`e}s Rastetter and Boris Keren and David Cohen and Anne Faudet and Delphine Bouteiller and Myl{\`e}ne Gilleron and Aur{\'e}lia Jacquette and Sandra Whalen and Alexandra Afenjar and Didier P{\'e}risse and Camille Laurent and C Dupuits and Christian Gautier and Marion Gerard and Guillaume Huguet and Samantha Caillet and Bruno P. Leheup and Marion Leboyer and Christopher Gillberg and Richard Delorme and Thomas Bourgeron and Alexis Brice and Christel Depienne},
  booktitle={Translational Psychiatry},
  year={2012}
}
The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders. To identify new X-linked genes associated with ASD, we analyzed the entire chromosome X exome by next-generation sequencing in 12 unrelated families with two affected males. Thirty-six possibly deleterious variants in 33 candidate genes were found, including PHF8 and HUWE1, previously implicated in intellectual disability (ID). A… CONTINUE READING