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

doi:10.1002/humu.20924

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Article

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

Human mutation - 1 Feb 2009

Brancati Francesco, Iannicelli Miriam, Travaglini Lorena, Mazzotta Annalisa, Bertini Enrico, Boltshauser Eugen, D'Arrigo Stefano, Emma Francesco, Fazzi Elisa, Gallizzi Romina, Gentile Mattia, Loncarevic Damir, Mejaski-Bosnjak Vlatka, Pantaleoni Chiara, Rigoli Luciana, Salpietro Carmelo D, Signorini Sabrina, Stringini Gilda Rita, Verloes Alain, Zabloka Dominika, Dallapiccola Bruno, Gleeson Joseph G, Valente Enza Maria

Abstract excerpt

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic...

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Identifiers

PMID: 19058225
DOI: 10.1002/humu.20924
PMCID: PMC2635428

Genes

TMEM67

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.PMID 19058225Read ↗

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

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

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