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Hereditary Non-syndromic Hearing Loss

Nonsyndromic Hereditary Hearing Loss

Over 100 genes are predicted to cause hereditary forms of nonsyndromic hearing loss (hereditary forms of hearing loss not associated with a broader genetic syndrome). As the chromosomal locations (loci) of the various genes responsible for nonsyndromic hearing loss are discovered, they are given specific designators based on their inheritance pattern and their order of discovery. Loci of genes causing X-linked forms of hearing loss are given the designation DFN and then numbered sequentially (DFN1, DNF2, DFN3...). Autosomal dominant loci have DFNA as their common designator (DFNA1, DFNA2, DFNA3...) and autosomal recessive loci have DFNB as their common designator (DFNB1, DFNB2, DFNB3...).
Different mutations within the same gene may cause different kinds of nonsyndromic or syndromic hearing loss. Different mutations in the Connexin 26 gene, for example, can lead to a dominantly inherited form of hearing loss associated with the DFNA3 locus on chromosome 13q12 or an autosomal recessive form of hearing loss associated with the DFNB1 locus at the same chromosomal location. Some specific mutations may cause both a syndromic form of hearing loss and a nonsyndromic form. Mutations in the Pendred syndrome gene (PDS), for example, cause both Pendred syndrome (sensorineural hearing loss and goiter) and an autosomal recessive form of nonsyndromic hearing loss associated with the DFNB4 locus on chromosome 7q31.
For more information visit the Hereditary Hearing Loss Homepage: which provides an extensive overview of the genetics of hereditary hearing impairment for researchers and clinicians working in the field.

Resources

Information & Support

For Professionals

Deafness, autosomal dominant (OMIM)
Extensive review of the literature, including clinical features and geneics, from the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.

Deafness, autosomal recessive (OMIM)
Extensive review of the literature, including clinical features and genetics, from the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

Authors

Author: Karl White, Ph D - 3/2010
Content Last Updated: 1/2011