Aliases: INPP5F, LOCR, NPHL2-1, OCRL1,OCRL
Chromosome No: X
Chromosome Band: Xq26.1
Genetic Category: Syndromic-Multigenic CNV-Rare single gene variant
Associated Syndrome(s): Lowe syndrome
ASD Reports: 11
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 10
Evidence score: 2
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Relevance to Autism
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.
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