Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
COACH syndrome is an autosomal recessive disorder caused by mutations in the CC2D2A gene.
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Verloes A et al. (1989) Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. 
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Gentile M et al. (1996) COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.
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Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
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Gorden NT et al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
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Dieterich E et al. (1980) Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia.
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Kumar S et al. (1996) Renal insufficiency is a component of COACH syndrome.
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Foell D et al. (2002) Early detection of severe cholestatic hepatopathy in COACH syndrome.
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Brancati F et al. (2009) MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
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OMIM.ORG article Omim 216360
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Orphanet article Orphanet ID 1454
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Wikipedia article Wikipedia EN (COACH_syndrome)
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