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Article

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

American journal of human genetics - 1 Jan 2007

Baala Lekbir, Romano Stephane, Khaddour Rana, Saunier Sophie, Smith Ursula M, Audollent Sophie, Ozilou Catherine, Faivre Laurence, Laurent Nicole, Foliguet Bernard, Munnich Arnold, Lyonnet Stanislas, Salomon Remi, Encha-Razavi Ferechte, Gubler Marie-Claire, Boddaert Nathalie, de Lonlay Pascale, Johnson Colin A, Vekemans Michel, Antignac Corinne, Attie-Bitach Tania

Abstract excerpt

Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous condition with mutations in two genes, AHI1 and CEP290, identified to date. In addition, NPHP1...

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Source

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Identifiers

PMID: 17160906
DOI: 10.1086/510499
PMCID: PMC1785313

Genes

MKS1
AHI1
NPHP1

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.PMID 17160906Read ↗

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

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

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

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.Semantic proximity Read ↗

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).Semantic proximity Read ↗

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.Semantic proximity Read ↗

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.Semantic proximity Read ↗

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel 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 ↗

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

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.Semantic proximity Read ↗

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