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| Content Provider | PubMed Central |
|---|---|
| Author | Hildebrand, Michael S. Thorne, Natalie P. Bromhead, Catherine J. Kahrizi, Kimia Webster, Jennifer A. Fattahi, Zohreh Bataejad, Mojgan Kimberling, William J. Stephan, Dietrich Najmabadi, Hossein Melanie, Bahlo Smith, Richard J. H. |
| Abstract | Myosin VIIA mutations have been associated with non-syndromic hearing loss (DFNB2; DFNA11) and Usher syndrome type 1B (USH1B). We report clinical and genetic analyzes of a consanguineous Iranian family segregating autosomal recessive non-syndromic hearing loss (ARNSHL). The hearing impairment was mapped to the DFNB2 locus using Affymetrix 50K GeneChips; direct sequencing of the MYO7A gene was completed. The Iranian family (L-1419) was shown to segregate a novel homozygous missense mutation (c.1184G>A) that results in a p.R395H amino acid substitution in the motor domain of the myosin VIIA protein. Since one affected family member had significantly less severe hearing loss we used a candidate approach to search for a genetic modifier. This novel MYO7A mutation is the first reported to cause DFNB2 in the Iranian population and this DFNB2 family is the first to be associated with a potential modifier. The absence of vestibular and retinal defects, and less severe low frequency hearing loss, is consistent with the phenotype of a recently reported Pakistani DFNB2 family. Thus, we conclude this family has non-syndromic hearing loss (DFNB2) rather than Usher syndrome type 1B (USH1B), providing further evidence that these two diseases represent discrete disorders. |
| Related Links | http://dx.doi.org/10.1111/j.1399-0004.2009.01344.x |
| Starting Page | 563 |
| File Format | |
| ISSN | 13990004 |
| e-ISSN | 13990004 |
| Journal | Clinical genetics |
| Issue Number | 6 |
| Volume Number | 77 |
| Language | English |
| Publisher Date | 2010-06-01 |
| Access Restriction | Open |
| Subject Keyword | Research in Higher Education |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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