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Article

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Nature genetics - 1 Apr 2008

Leitch Carmen C, Zaghloul Norann A, Davis Erica E, Stoetzel Corinne, Diaz-Font Anna, Rix Suzanne, Alfadhel Majid, Al-Fadhel Majid, Lewis Richard Alan, Eyaid Wafaa, Banin Eyal, Dollfus Helene, Beales Philip L, Badano Jose L, Katsanis Nicholas

Abstract excerpt

Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic...

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Source

Identifiers

PMID: 18327255
DOI: 10.1038/ng.97

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.PMID 18327255Read ↗

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

Disruption of a ciliary B9 protein complex causes Meckel syndrome.Semantic proximity Read ↗

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.Semantic proximity Read ↗

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

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

Bardet-Biedl syndrome: Is it only cilia dysfunction?Semantic proximity Read ↗

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

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

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.Semantic proximity Read ↗

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