MYO1F as a candidate gene for nonsyndromic deafness, DFNB15

Achih H. Chen, Dietrich A. Stephan, Tama Hasson, Kunihiro Fukushima, Christiana M. Nelissen, Arthur F. Chen, Andrew I. Jun, Arabandi Ramesh, Guy Van Camp, Richard J.H. Smith

Research output: Contribution to journalArticle

17 Citations (Scopus)

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 deafnesscausing 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 singlestranded 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.

Original languageEnglish (US)
Pages (from-to)921-925
Number of pages5
JournalArchives of Otolaryngology - Head and Neck Surgery
Volume127
Issue number8
DOIs
StatePublished - Jan 1 2001

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Myosins
Genes
Deafness
Radiation Hybrid Mapping
Mutation
Chromosomes
Exons
Alleles
Nonsyndromic Deafness
Cochlea
Hearing Loss
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology

Cite this

Chen, A. H., Stephan, D. A., Hasson, T., Fukushima, K., Nelissen, C. M., Chen, A. F., ... Smith, R. J. H. (2001). MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. Archives of Otolaryngology - Head and Neck Surgery, 127(8), 921-925. https://doi.org/10.1001/archotol.127.8.921

MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. / Chen, Achih H.; Stephan, Dietrich A.; Hasson, Tama; Fukushima, Kunihiro; Nelissen, Christiana M.; Chen, Arthur F.; Jun, Andrew I.; Ramesh, Arabandi; Van Camp, Guy; Smith, Richard J.H.

In: Archives of Otolaryngology - Head and Neck Surgery, Vol. 127, No. 8, 01.01.2001, p. 921-925.

Research output: Contribution to journalArticle

Chen, AH, Stephan, DA, Hasson, T, Fukushima, K, Nelissen, CM, Chen, AF, Jun, AI, Ramesh, A, Van Camp, G & Smith, RJH 2001, 'MYO1F as a candidate gene for nonsyndromic deafness, DFNB15', Archives of Otolaryngology - Head and Neck Surgery, vol. 127, no. 8, pp. 921-925. https://doi.org/10.1001/archotol.127.8.921
Chen AH, Stephan DA, Hasson T, Fukushima K, Nelissen CM, Chen AF et al. MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. Archives of Otolaryngology - Head and Neck Surgery. 2001 Jan 1;127(8):921-925. https://doi.org/10.1001/archotol.127.8.921
Chen, Achih H. ; Stephan, Dietrich A. ; Hasson, Tama ; Fukushima, Kunihiro ; Nelissen, Christiana M. ; Chen, Arthur F. ; Jun, Andrew I. ; Ramesh, Arabandi ; Van Camp, Guy ; Smith, Richard J.H. / MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. In: Archives of Otolaryngology - Head and Neck Surgery. 2001 ; Vol. 127, No. 8. pp. 921-925.
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AU - Stephan, Dietrich A.

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AU - Nelissen, Christiana M.

AU - Chen, Arthur F.

AU - Jun, Andrew I.

AU - Ramesh, Arabandi

AU - Van Camp, Guy

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N2 - 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 deafnesscausing 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 singlestranded 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.

AB - 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 deafnesscausing 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 singlestranded 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.

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