Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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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.

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

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10.

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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11.

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

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12.

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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13.

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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14.

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

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15.

NCBI article

NCBI 65217 external link
16.

OMIM.ORG article

Omim 605514 external link
17.

Orphanet article

Orphanet ID 124119 external link
Update: 14. August 2020
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