Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

RPGRIP1-ähnlich

Das Gen CEP164 kodiert ein zentrosomales Protein, welches bei der Organisation der Mikrotubuli beteiligt ist. Mutationen in diesem Gen sind für die autosomal rezessive Nephronophthise 8 verantwortlich.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Nephronophthise 8
RPGRIP1L
Joubert-Syndroms 7
RPGRIP1L
Meckel-Syndrom 5
RPGRIP1L

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.

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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3.

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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4.

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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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.

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

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8.

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

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