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Evidence for involvement of GNB1L in autism
Authors
Raphael Bernier
Zoran Brkanac
+17 more
Ying Zhang Chen
Geraldine Dawson
Evan E. Eichler
Annette Estes
Santhosh Girirajan
Mark Lisowski
Mark Matsushita
Nancy Minshew
Deborah A. Nickerson
Wendy H. Raskind
Mark J. Rieder
Gerard D. Shellenberg
Youngmee Sul
Elizabeth Sun
Debby W. Tsuang
Ming T. Tsuang
Ellen M. Wijsman
Publication date
16 November 2011
Publisher
Doi
Cite
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on
PubMed
Abstract
Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q11.2 duplication (dup22q11.2) syndromes. The majority of del22q11.2 cases have facial and cardiac malformations, immunologic impairments, specific cognitive profile and increased risk for schizophrenia and autism spectrum disorders (ASDs). The phenotype of dup22q11.2 is frequently without physical features but includes the spectrum of neurocognitive abnormalities. Although there is substantial evidence that haploinsufficiency for TBX1 plays a role in the physical features of del22q11.2, it is not known which gene(s) in the critical 1.5 Mb region are responsible for the observed spectrum of behavioral phenotypes. We identified an individual with a balanced translocation 46,XY,t(1;22)(p36.1;q11.2) and a behavioral phenotype characterized by cognitive impairment, autism, and schizophrenia in the absence of congenital malformations. Using somatic cell hybrids and comparative genomic hybridization (CGH) we mapped the chromosome-22 breakpoint within intron 7 of the GNB1L gene. Copy number evaluations and direct DNA sequencing of GNB1L in 271 schizophrenia and 513 autism cases revealed dup22q11.2 in two families with autism and private GNB1L missense variants in conserved residues in three families (P = 0.036). The identified missense variants affect residues in the WD40 repeat domains and are predicted to have deleterious effects on the protein. Prior studies provided evidence that GNB1L may have a role in schizophrenia. Our findings support involvement of GNB1L in ASDs as well. © 2011 Wiley Periodicals, Inc
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Last time updated on 24/11/2020