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Genetic and Rare Diseases Information Center (GARD)

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Usher syndrome


Other Names for this Disease
  • Deafness-retinitis pigmentosa syndrome
  • Dystrophia retinae pigmentosa-dysostosis syndrome
  • Graefe-Usher syndrome
  • Hallgren syndrome
  • Usher's syndrome
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Your Question

I have a family history of Usher syndrome.  How can I find out whether I am a carrier of Usher syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Usher syndrome?

Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.[1]
Last updated: 3/3/2014

What causes Usher syndrome?

Usher syndrome is an inherited condition that may be caused by mutations in any of a number of genes. To date, quite a few disease-causing genes have been identified, and additional areas of certain chromosomes (loci) are also suspected to contain genes that cause Usher syndrome.

Of the genes identified, those which may cause Usher syndrome type 1 include CDH23, MYO7A, PCDH15, USH1C, CIB2, and USH1G; those which may cause type 2 include USH2A, GPR98, PDZD7, and DFNB31; and those which may cause type 3 include CLRN1.[2][3][4][5][6]

Many of the genes related to Usher syndrome give instructions to make proteins needed for normal hearing, balance, and vision. The signs and symptoms of Usher syndrome occur when these genes have mutations that impair how they function. In some cases, the exact role of the genes involved is unknown.[7]
Last updated: 3/4/2014

How can I find out whether I am a carrier for Usher syndrome?

Genetic carrier testing for Usher syndrome may be available if the disease-causing gene and mutation in an affected individual in the family has been identified.

GeneTests lists the names of laboratories that currently perform genetic testing for the different types of Usher syndrome. See GeneTests' list of the different types of Usher syndrome and the genetic tests that are available.
Last updated: 9/30/2013

Who can assist me with learning more about genetic testing for Usher syndrome?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 9/30/2013

References