Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Protocadherin-15

Das PCDH15-Gen kodiert ein Zelladhäsionsprotein. Mutationen führen zu verschiedenen autosomal rezessiven Erkrankungen wie das Usher-Syndrom 1F und die autosomal rezessive Schwerhörigkeit 23. Gemeinsam mit dem CDH23-Gen ist es für das digenische Usher-Syndrom 1D/F verantwortlich.

Gentests:

Klinisch 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
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Usher-Syndrom 1F
PCDH15
Usher-Syndrom 1F
PCDH15
Usher-Syndrom 1D/F
CDH23
PCDH15

Referenzen:

1.

Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

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2.

Ahmed ZM et al. (2003) PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

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3.

Doucette L et al. (2009) Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

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4.

Zheng QY et al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

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5.

Ahmed ZM et al. (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

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6.

Rebibo-Sabbah A et al. (2007) In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.

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7.

Ahmed ZM et al. (2008) Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

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8.

Alagramam KN et al. (2001) The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.

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9.

Alagramam KN et al. (2001) Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

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10.

Ben-Yosef T et al. (2003) A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

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11.

Ouyang XM et al. (2005) Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

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12.

Alagramam KN et al. (2007) Promoter, alternative splice forms, and genomic structure of protocadherin 15.

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13.

Kazmierczak P et al. (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.

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14.

Sotomayor M et al. (2012) Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.

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15.

NCBI article

NCBI 65217 [^]
16.

OMIM.ORG article

Omim 605514 [^]
17.

Orphanet article

Orphanet ID 124119 [^]
Update: 29. April 2019