Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

COACH-Syndrom

Das COACH-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen CC2D2A hervorgerufen wird.

Gliederung

Ziliopathie
COACH-Syndrom
CC2D2A
RPGRIP1L
TMEM67
Joubert-Syndrom
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 9
Senior-Loken-Syndrom

Referenzen:

1.

Verloes A et. al. (1989) Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

[^]
2.

Gentile M et. al. (1996) COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.

[^]
3.

Doherty D et. al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

[^]
4.

Gorden NT et. al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

[^]
5.

Dieterich E et. al. (1980) Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia.

[^]
6.

Kumar S et. al. (1996) Renal insufficiency is a component of COACH syndrome.

[^]
7.

Foell D et. al. (2002) Early detection of severe cholestatic hepatopathy in COACH syndrome.

[^]
8.

Brancati F et. al. (2009) MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

[^]