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Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome
Author(s) -
Schroer Richard J.,
Beaudet Arthur L.,
Shinawi Marwan,
Sahoo Trilochan,
Patel Ankita,
Sun Qin,
Skinner Cindy,
Stevenson Roger E.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35566
Subject(s) - gene duplication , proband , autism , gene , genetics , intellectual disability , biology , medicine , psychiatry , mutation
Disturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated with autism, intellectual disability, and recognizable malformation syndromes. In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking genes. Activity of the enzyme gene product in fibroblasts was elevated to over twice the level in control fibroblasts. The boy had no somatic or neurological findings reminiscent of Lowe syndrome. © 2012 Wiley Periodicals, Inc.