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

AS Brooks; AM Bertoli-Avella; GM Burzynski; GJ Breedveld; J Osinga; LG Boven; JA Hurst; GMS Mancini; MH Lequin; RF de Coo; Ivana Matera; E de Graaff; C Meijers; PJ Willems; D Tibboel; BA Oostra; RMW Hofstra

doi:10.1086/431244

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

AS Brooks, AM Bertoli-Avella, GM Burzynski, GJ Breedveld, J Osinga, LG Boven, JA Hurst, GMS Mancini, MH Lequin, RF de Coo, Ivana Matera, E de Graaff, C Meijers, PJ Willems, D Tibboel, BA Oostra, RMW Hofstra^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

138 Citations (Scopus)

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.

Original language	English
Pages (from-to)	120-126
Number of pages	7
Journal	American Journal of Human Genetics
Volume	77
Issue number	1
DOIs	https://doi.org/10.1086/431244
Publication status	Published - Jul-2005

Keywords

HIRSCHSPRUNG-DISEASE
MENTAL-RETARDATION
GENE
POLYMICROGYRIA
2Q22-Q23
DISTINCT
DNA

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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems
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Brooks, AS., Bertoli-Avella, AM., Burzynski, GM., Breedveld, GJ., Osinga, J., Boven, LG., Hurst, JA., Mancini, GMS., Lequin, MH., de Coo, RF., Matera, I., de Graaff, E., Meijers, C., Willems, PJ., Tibboel, D., Oostra, BA., & Hofstra, RMW. (2005). Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. American Journal of Human Genetics, 77(1), 120-126. https://doi.org/10.1086/431244

@article{655c3d695270453eb9189d3a1287882b,

title = "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.",

keywords = "HIRSCHSPRUNG-DISEASE, MENTAL-RETARDATION, GENE, POLYMICROGYRIA, 2Q22-Q23, DISTINCT, DNA",

author = "AS Brooks and AM Bertoli-Avella and GM Burzynski and GJ Breedveld and J Osinga and LG Boven and JA Hurst and GMS Mancini and MH Lequin and {de Coo}, RF and Ivana Matera and {de Graaff}, E and C Meijers and PJ Willems and D Tibboel and BA Oostra and RMW Hofstra",

year = "2005",

month = jul,

doi = "10.1086/431244",

language = "English",

volume = "77",

pages = "120--126",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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Brooks, AS, Bertoli-Avella, AM, Burzynski, GM, Breedveld, GJ, Osinga, J, Boven, LG, Hurst, JA, Mancini, GMS, Lequin, MH, de Coo, RF, Matera, I, de Graaff, E, Meijers, C, Willems, PJ, Tibboel, D, Oostra, BA & Hofstra, RMW 2005, 'Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems', American Journal of Human Genetics, vol. 77, no. 1, pp. 120-126. https://doi.org/10.1086/431244

TY - JOUR

T1 - Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

AU - Brooks, AS

AU - Bertoli-Avella, AM

AU - Burzynski, GM

AU - Breedveld, GJ

AU - Osinga, J

AU - Boven, LG

AU - Hurst, JA

AU - Mancini, GMS

AU - Lequin, MH

AU - de Coo, RF

AU - Matera, Ivana

AU - de Graaff, E

AU - Meijers, C

AU - Willems, PJ

AU - Tibboel, D

AU - Oostra, BA

AU - Hofstra, RMW

PY - 2005/7

Y1 - 2005/7

N2 - 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.

AB - 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.

KW - HIRSCHSPRUNG-DISEASE

KW - MENTAL-RETARDATION

KW - GENE

KW - POLYMICROGYRIA

KW - 2Q22-Q23

KW - DISTINCT

KW - DNA

U2 - 10.1086/431244

DO - 10.1086/431244

M3 - Article

SN - 0002-9297

VL - 77

SP - 120

EP - 126

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

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

Abstract

Keywords

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