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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

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.

SUBMITTER: Brooks AS

PROVIDER: S-EPMC1226183 | biostudies-literature | 2005 Jul

REPOSITORIES: biostudies-literature

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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks Alice S AS Bertoli-Avella Aida M AM Burzynski Grzegorz M GM Breedveld Guido J GJ Osinga Jan J Boven Ludolf G LG Hurst Jane A JA Mancini Grazia M S GM Lequin Maarten H MH de Coo Rene F RF Matera Ivana I de Graaff Esther E Meijers Carel C Willems Patrick J PJ Tibboel Dick D Oostra Ben A BA Hofstra Robert M W RM

American journal of human genetics 20050509 1

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 ...[more]

PMID: 15883926

Dataset Information

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Publications

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

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