Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Usher-Syndrom 1D

Das Usher-Syndrome vom Typ 1D wird durch Mutationen im CDH23-Gen hervorgerufen. Die Vererbung ist autosomal rezessiv. Das klinische Bild wird bestimmt von einer Hörstörung und einer Retinitis pigmentosa.

Gliederung

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

Referenzen:

1.

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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2.

Di Palma F et. al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

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3.

Bolz H et. al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

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4.

Schultz JM et. al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

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5.

Möller CG et. al. (1989) Usher syndrome: an otoneurologic study.

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6.

Wayne S et. al. (1996) Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

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