Mutations in the OCRL gene are responsible for Lowe syndrome (OMIM 309000), an X-linked multisystem disorder affecting the eyes, nervous system, and kidney. Maladaptive behaviors, including stereotypic/repetitive behavior, are frequently observed in Lowe syndrome cases (Kenworthy et al., 1993; Kenworth and Charnas, 1995). Evaluation of 52 patients with Lowe syndrome with the Autism Screening Questionnaire found that 71.2% of patients met the cut-off score for ASD and 34.6% met the cut-off score for autism (Oliver et al., 2011). A maternally-inherited duplication of Xq25 including full gene duplication of OCRL was identified in a male proband diagnosed with ASD and intellectual disability (Schroer et al., 2012).
Molecular Function
This gene encodes an inositol polyphosphate 5-phosphatase that is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe.
