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

doi:10.1002/ajmg.a.35566

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

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15 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 language	English
Pages (from-to)	2602-2605
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	158 A
Issue number	10
DOIs	https://doi.org/10.1002/ajmg.a.35566
State	Published - Oct 2012

Keywords

Autism
Lowe syndrome
Microduplication
OCRL
X chromosome

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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.",

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AU - Schroer, Richard J.

AU - Beaudet, Arthur L.

AU - Shinawi, Marwan

AU - Sahoo, Trilochan

AU - Patel, Ankita

AU - Sun, Qin

AU - Skinner, Cindy

AU - Stevenson, Roger E.

PY - 2012/10

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AB - 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.

KW - Autism

KW - Lowe syndrome

KW - Microduplication

KW - OCRL

KW - X chromosome

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 10

ER -

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

Abstract

Keywords

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