Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Research Abstract Details 

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Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Abstract Text:

Autism is a highly heritable neurodevelopmental syndrome with a complex genetic etiology for which no disease genes have yet been definitively identified. We ascertained three subjects with autism spectrum disorders and chromosome 2q37.3 terminal deletions, and refined the deletion breakpoint regions using polymorphism mapping and fluorescence in situ hybridization (FISH) probes. We then genotyped polymorphic markers downstream from the breakpoint region in a sample of autism affected sibling pair families. Both the chromosomal breakpoints and linkage analyses focused our attention on the gene centaurin gamma-2 (CENTG2), an attractive candidate gene based also on its function and pattern of expression. We therefore assessed CENTG2 for its involvement in autism by (1) screening its exons for variants in 199 autistic and 160 non-autistic individuals, and (2) genotyping and assessing intra-genic polymorphisms for linkage and linkage disequilibrium (LD). The exon screen revealed a Ser --> Gly substitution in one proband, an Arg --> Gly substitution in another, and a number of additional variants unique to the autism families. No unique variants were found in the control subjects. The genotyping produced strong evidence for linkage from two intronic polymorphisms, with a maximum two-point HLOD value of 3.96 and a posterior probability of linkage (PPL) of 51%. These results were contradicted, however, by substantially weaker evidence for linkage from multi-point analyses and by no evidence of LD. We conclude, therefore, that 2q37.3 continues to be a region of interest for autism susceptibility, and that CENTG2 is an intriguing candidate gene that merits further scrutiny for its role in autism.

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Publishing Authors By Initials

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Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: American journal of medical genetics. Part B, Neur

VOLUME: 136B

Page Numbers: 36-44

Journal Abbreviation: Am. J. Med. Genet. B Neuropsyc

ISSN: 1552-4841

DAY: 5

MONTH: Jul

YEAR: 2005

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Information

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LANGUAGE: eng

NlmUniqueID: 101235742

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Keywords Mesh Terms:

KEYWORDS: Telomere

MESH TERMS: genetics

Chemical & Substance for Abstract: Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Information

Substance Name: ADP-Ribosylation Factors

Registry Number: EC 3.6.5.2

Grant and Affiliation Information for Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.

AFFILIATION: Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, 52242, USA. thomas-wassink@uiowa.edu

Country: United States

AGENCY: United States NIMH

GRANT: U54 MH066418

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MEDLINETA: Am J Med Genet B Neuropsychiat

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