NDLI: Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance.

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Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance.

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Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	LaBuda, M. C. Riddle, M. A. Walkup, J. T. Hurko, O. Singer, H. S. Brown, J.
Description	Country affiliation: United States Author Affiliation: Walkup JT ( Department of Psychiatry and Behavioral Sciences, Johns Hopkins Medical Institutions, Baltimore, USA.)
Abstract	To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibility for TS is conveyed by a major locus in combination with a multifactorial background. Other models of inheritance were definitively rejected, including strictly polygenic models, all single major locus models, and mixed models with dominant and recessive major loci. The frequency of the TS susceptibility allele was estimated to be .01. The major locus accounts for over half of the phenotypic variance for TS, whereas the multifactorial background accounts for approximately 40% of phenotypic variance. Penetrance estimates suggest that all individuals homozygous for the susceptibility allele at the major locus are affected, whereas only 2.2% of males and 0.3% of females heterozygous at the major locus are affected. Of individuals affected with TS, approximately 62% are heterozygous and approximately 38% are homozygous at the major locus. While none of the families had two parents affected with TS, 19% of families had two parents affected with the broader, phenotype, which includes TS, chronic tic disorder, or obsessive-compulsive disorder.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	3
Volume Number	59
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	1996-09-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Models, Genetic Tourette Syndrome Diagnosis Genetics Adolescent Child, Preschool Disease Susceptibility Gene Frequency Obsessive-compulsive Disorder Pedigree Sex Factors Tic Disorders Epidemiology Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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