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 |
Verknüpfte Erkrankungen:
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
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16. |
OMIM.ORG article
Omim 605514
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17. |
Orphanet article
Orphanet ID 124119
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Update: 14. August 2020