Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

VPS33B-Gen

Das VPS33B-Gen kodiert ein lysosomales Transportprotein. Mutationen führen zum autosomal rezessiven ARC-Syndrom 1.

Diagnostik:

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

Krankheiten:

ARC-Syndrom 1
VPS33B

Referenzen:

1.

Carim L et al. (2000) Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.

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2.

Huizing M et al. (2001) Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.

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3.

Eastham KM et al. (2001) ARC syndrome: an expanding range of phenotypes.

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4.

Gissen P et. al. (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

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5.

Gissen P et. al. (2006) Clinical and molecular genetic features of ARC syndrome.

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6.

Taha D et. al. (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

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7.

Cullinane AR et. al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

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8.

Horslen SP et. al. (1994) Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

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