Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome

Richard J. Schroer, Arthur L. Beaudet, Marwan Shinawi, Trilochan Sahoo, Ankita Patel, Qin Sun, Cindy Skinner, Roger E. Stevenson

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)2602-2605
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number10
DOIs
StatePublished - Oct 1 2012

Keywords

  • Autism
  • Lowe syndrome
  • Microduplication
  • OCRL
  • X chromosome

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