title: 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.
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.
authors.affiliation: Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA. delon006@mc.duke.edu
authors.forename: Robert
authors.initials: R
authors.lastname: Delong
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000453:epidemiology* / Q000235:genetics*; D000483:Alleles; D001321:Autistic Disorder / Q000453:epidemiology* / Q000235:genetics*; D001714:Bipolar Disorder / Q000453:epidemiology* / Q000235:genetics*; D015897:Comorbidity; D004569:Electroencephalography; D005260:Female; D015870:Gene Expression / Q000235:genetics; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011963:Receptors, GABA-A / Q000235:genetics*
chemical_list: D011963:Receptors, GABA-A