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MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
A H Chen1, D A Stephan, T Hasson
1Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospital and Clinics, Iowa City, IA 52242, USA.
Archives of Otolaryngology--Head & Neck Surgery
|September 5, 2001
Summary
Researchers investigated the MYO1F gene for its role in autosomal recessive nonsyndromic hearing loss (DFNB15). No mutations were found in the studied family, suggesting MYO1F is unlikely to cause deafness in this specific case.
Area of Science:
- Genetics
- Molecular Biology
- Otolaryngology
Background:
- The autosomal recessive nonsyndromic deafness locus, DFNB15, has been mapped to chromosomes 3q21.3-q25.2 and 19p13.3-13.1.
- Mutations in unconventional myosins are known causes of deafness in humans and mice.
- Myosin 1F (MYO1F), an unconventional myosin, is expressed in the cochlea and maps to chromosome 19p13.3-13.2, making it a potential candidate gene for DFNB15.
Purpose of the Study:
- To evaluate MYO1F as a candidate gene for deafness at the DFNB15 locus.
- To determine the genomic structure of MYO1F.
- To screen MYO1F exons for mutations in a DFNB15 family.
Main Methods:
- Radiation hybrid mapping to localize MYO1F on chromosome 19p.
- Long-range polymerase chain reaction to determine genomic structure.
- Mutation screening via single-stranded conformational polymorphism analysis and direct sequencing.
Main Results:
- MYO1F was localized to the DFNB15 interval, confirming its positional candidacy.
- The genomic structure of MYO1F comprises 24 coding exons.
- No mutations or genomic rearrangements in MYO1F were identified in the DFNB15 family.
Conclusions:
- MYO1F is unlikely to be the causative gene for deafness in the studied DFNB15 family.
- MYO1F remains a potential candidate gene for other forms of hereditary hearing impairment.
- The broad tissue expression of MYO1F suggests it may also be implicated in syndromic deafness.