Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Usher syndrome

Usher syndrome is a clinically and genetically heterogeneous group of disorgers whose common signs are congenital hearing loss, early retinitis pigmentosa, and vestibular dysfunction.

Systematic

Hereditary deafness
Alport Syndrome
Autosomal recesive deafness 12
Autosomal recessive deafness 23
Autosomal recessive deafness 4 with enlarged vestibular aqueduct
Enlarged vestibular aqueduct
Hereditary deafness 97
IVIC syndrome
MYH9 related disorders
Stapes ankylosis with broad thumbs and toes
Usher syndrome
Usher syndrome 1D
CDH23
Usher syndrome 1D/F
CDH23
PCDH15
Usher syndrome 1F
PCDH15
X-linked non-syndromic sensorineural deafness type DFN

References:

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.

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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3.

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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4.

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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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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7.

Orphanet article

Orphanet ID 886 [^]
8.

Wikipedia article

Wikipedia EN (Usher_syndrome) [^]
Update: April 29, 2019