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Article

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Human mutation - 1 Jan 2008

Frank Valeska, den Hollander Anneke I, Brüchle Nadina Ortiz, Zonneveld Marijke N, Nürnberg Gudrun, Becker Christian, Du Bois Gabriele, Kendziorra Heide, Roosing Susanne, Senderek Jan, Nürnberg Peter, Cremers Frans P M, Zerres Klaus, Bergmann Carsten

Abstract excerpt

Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disorders (ciliopathies). By positional cloning in a distantly related multiplex family, we mapped a...

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Source

Identifiers

PMID: 17705300
DOI: 10.1002/humu.20614

Genes

MKS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.PMID 17705300Read ↗

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.Semantic proximity Read ↗

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