Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

doi:10.1086/519494

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Article

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

American journal of human genetics - 1 Jul 2007

Baala Lekbir, Audollent Sophie, Martinovic Jéléna, Ozilou Catherine, Babron Marie-Claude, Sivanandamoorthy Sivanthiny, Saunier Sophie, Salomon Rémi, Gonzales Marie, Rattenberry Eleanor, Esculpavit Chantal, Toutain Annick, Moraine Claude, Parent Philippe, Marcorelles Pascale, Dauge Marie-Christine, Roume Joëlle, Le Merrer Martine, Meiner Vardiella, Meir Karen, Menez Françoise, Beaufrère Anne-Marie, Francannet Christine, Tantau Julia, Sinico Martine, Dumez Yves, MacDonald Fiona, Munnich Arnold, Lyonnet Stanislas, Gubler Marie-Claire, Génin Emmanuelle, Johnson Colin A, Vekemans Michel, Encha-Razavi Férechté, Attié-Bitach Tania

Abstract excerpt

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1-MKS3), and two genes have been identified (MKS1/FLJ20345 and MK...

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Identifiers

PMID: 17564974
DOI: 10.1086/519494
PMCID: PMC1950929

Genes

MKS1
TMEM67

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17564974-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.PMID 17564974Read ↗

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

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.Semantic proximity Read ↗

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).Semantic proximity Read ↗

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

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.Semantic proximity Read ↗

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.Semantic proximity Read ↗

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.Semantic proximity Read ↗

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.Semantic proximity Read ↗

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.Semantic proximity Read ↗

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.Semantic proximity Read ↗

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.Semantic proximity Read ↗

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