Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2005 May 11

PMID 15883926

Citations 59

Authors

Alice S Brooks

Aida M Bertoli-Avella

Grzegorz M Burzynski

Guido J Breedveld

Jan Osinga

Ludolf G Boven

Jane A Hurst

Grazia M S Mancini

Maarten H Lequin

Rene F de Coo

Ivana Matera

Esther de Graaff

Carel Meijers

Patrick J Willems

Dick Tibboel

Ben A Oostra

Robert M W Hofstra

Affiliations

Soon will be listed here.

Abstract

We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic features of GOSHS in this inbred family included microcephaly and mental retardation, which are both central nervous system defects, as well as Hirschsprung disease, an enteric nervous system defect. Furthermore, since bilateral generalized polymicogyria was diagnosed in all patients in this family, this feature might also be considered a key feature of the syndrome. We demonstrate that homozygous nonsense mutations in KIAA1279 at 10q22.1, encoding a protein with two tetratrico peptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development.

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