Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

RPGRIP1-ähnlich

Das Gen RPGRIP1L kodiert ein zentrosomales Protein, welches bei der Organisation der Mikrotubuli beteiligt ist. Mutationen in diesem Gen sind für verschiedene autosomal rezessive Ziliopathien wie Nephronophthise 8, Meckel-Syndrom 5, Joubert-Syndrom 7 und COACH-Syndrom verantwortlich.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Nephronophthise 08
RPGRIP1L
Joubert-Syndrom 07
RPGRIP1L
Meckel-Syndrom 05
RPGRIP1L
COACH-Syndrom
CC2D2A
RPGRIP1L
TMEM67

Referenzen:

1.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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2.

Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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3.

Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

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4.

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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5.

Arts HH et al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

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6.

Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

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7.

Brancati F et al. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

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8.

Wolf MT et al. (2007) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

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9.

OMIM.ORG article

Omim 610937 [^]
10.

Orphanet article

Orphanet ID 140541 [^]
11.

NCBI article

NCBI 23322 [^]
Update: 29. April 2019