Research article summary (published 27 Feb 2007):

GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism.

Full Abstract

Our earlier family history studies of individuals with autism found a high incidence of major affective disorder, especially bipolar disorder, and unusual talents or intellectual abilities among family members. We now describe a subgroup of such families, selected from a large clinical experience, illustrating specific features of major affective disorder, special talents or intellectual ability, and familial patterns of trait transmission, with the additional feature of oculocutaneous albinism in some cases. These observations, suggesting parent-of-origin and gain-of-function effects, considered together with recent genetic findings in the literature, suggest a genetic hypothesis possibly unifying disparate observations found in families of individuals with autism.

Learn Faster Today      Improve your study skills

Author information

Author/s: Delong, Robert (R);

Affiliation: Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA. delon006(-atsign-)mc.duke.edu

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Autism : the international journal of research and practice (Autism), published in England. (Language: eng)

Reference: 2007-Mar; vol 11 (issue 2) : pp 135-47

Dates: Created 2007/03/13; Completed 2007/07/03; Revised 2007/08/16;

PMID: 17353214, status: MEDLINE (last retrieval date: 12/26/2008)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

External Links for this article (including full text providers, if available):

Click Electronic Full-text Provider Links to see options for finding the electronic full text links to this article. Note there may be a subscription or fee required for access to the full text. See our FAQ for information on finding FREE full text articles.

This article may also be located in paper journal collections available in many libraries. Use the Journal and Publication Information above to find the full article.

MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adult Albinism, Oculocutaneous - epidemiology; genetics Alleles Autistic Disorder - epidemiology; genetics Bipolar Disorder - epidemiology; genetics Comorbidity Electroencephalography Female

Female Gene Expression - genetics Genomic Imprinting - genetics Humans Male Pedigree Phenotype Receptors, GABA-A - genetics

Associated Chemicals: Receptors, GABA-A (0)

Related articles

These are the highest related articles currently in the database:

• Parent-of-origin effect and genomic imprinting of the HTR2A receptor gene T102C polymorphism in psychosis. Apr 2007
• Hermansky-Pudlak syndrome in a Swiss population. 30 Dec 1992
• Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14. 12 Mar 2006
• Electron microscopic DOPA reaction test for oculocutaneous albinism. 30 May 2000
• Advancing paternal age and autism. 30 Aug 2006
• Red or rufous albinism in southern Africa. 30 Aug 1990
• Hermansky-Pudlak syndrome (HPS). An epidemiologic study. 30 Aug 1990
• African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. 30 May 1994
• Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. 30 Mar 1994
• Biparental alleles of HLA-G are co-dominantly expressed in the placenta. 27 Feb 1997

See 100+ related articles.

Related Article Map

Legend: - FREE Full text Article. - Abstract only. - Title only. More help.

See a large map of 100+ related articles.