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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly

Gail E Herman1, Eric Butter, Benedicta Enrile

  • 1Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA. hermang@ccri.net

American Journal of Medical Genetics. Part A
|February 9, 2007
PubMed

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...