Journal article
MYO1F as a Candidate Gene for Nonsyndromic Deafness, DFNB15
Archives of otolaryngology--head & neck surgery, Vol.127(8), pp.921-925
08/01/2001
DOI: 10.1001/archotol.127.8.921
PMID: 11493199
Abstract
BACKGROUND Earlier studies have mapped the autosomal recessive nonsyndromic deafness locus, DFNB15, to chromosomes 3q21.3-q25.2 and 19p13.3-13.1, identifying one of these chromosomal regions (or possibly both) as the site of a deafness-causing gene. Mutations in unconventional myosins cause deafness in mice and humans. One unconventional myosin, myosin 1F (MYO1F), is expressed in the cochlea and maps to chromosome 19p13.3-13.2. OBJECTIVE To evaluate MYO1F as a candidate gene for deafness at the DFNB15 locus by determining its genomic structure and screening each exon for deafness-causing mutations to identify possible allele variants of MYO1F segregating in the DFNB15 family. METHODS We used radiation hybrid mapping to localize MYO1F on chromosome arm 19p. We next determined its genomic structure using multiple long-range polymerase chain reaction experiments. Using these data, we completed mutation screening using single-stranded conformational polymorphism analysis and direct sequencing of affected and nonaffected persons in the original DFNB15 family. RESULTS Radiation hybrid mapping placed MYO1F in the DFNB15 interval, establishing it as a positional candidate gene. Its genomic structure consists of 24 coding exons. No mutations or genomic rearrangements were found in the original DFNB15 family, making it unlikely that MYO1F is the disease-causing gene in this kindred. CONCLUSIONS Although we did not find MYO1F allele variants in one family with autosomal recessive nonsyndromic hearing loss, the gene remains an excellent candidate for hereditary hearing impairment. Given its wide tissue expression, MYO1F might cause syndromic deafness.Arch Otolaryngol Head Neck Surg. 2001;127:921-925-->
Details
- Title: Subtitle
- MYO1F as a Candidate Gene for Nonsyndromic Deafness, DFNB15
- Creators
- Achih H ChenDietrich A StephanTama HassonKunihiro FukushimaChristiana M NelissenArthur F ChenAndrew I JunArabandi RameshGuy Van CampRichard J. H Smith
- Resource Type
- Journal article
- Publication Details
- Archives of otolaryngology--head & neck surgery, Vol.127(8), pp.921-925
- DOI
- 10.1001/archotol.127.8.921
- PMID
- 11493199
- NLM abbreviation
- Arch Otolaryngol Head Neck Surg
- ISSN
- 0886-4470
- eISSN
- 1538-361X
- Publisher
- American Medical Association
- Language
- English
- Date published
- 08/01/2001
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006336902771
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