Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic 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:

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.

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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3.

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

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4.

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

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5.

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

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6.

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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7.

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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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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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.

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

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