%608652
Table of Contents
Cytogenetic location: 9p22-p21 Genomic coordinates (GRCh38) : 9:14,200,001-33,200,000
D'Adamo et al. (2003) reported a large, multigenerational southern Italian family with an autosomal dominant form of progressive postlingual sensorineural deafness. The hearing loss appeared to be caused by a completely penetrant mutation with a variable age of onset: age 30 to 35 years for the first symptoms, and age 20 to 25 years for the first audiometric abnormalities. An initial high frequency hearing loss progressed with age to include middle and lower frequencies, with a moderate to severe sensorineural deafness invariably present by about age 50. No vestibular dysfunction or other associated abnormalities were noted.
In a large Italian family with progressive postlingual sensorineural deafness, D'Adamo et al. (2003) identified linkage with a locus, designated DFNA47, on chromosome 9p22-p21 (maximum lod score of 3.67 at theta = 0.0 with D9S162). Using recombinants, they narrowed the candidate region to an approximately 9-cM region between D9S268 and D9S942.
Shahin et al. (2010) noted that the DFNA47 locus maps within the region of the DFNB83 locus (613685) and suggested that mutations in the same gene may be responsible for both the recessive and dominant hearing loss.
D'Adamo, P., Donaudy, F., D'Eustacchio, A., Di Iorio, E., Melchionda, S., Gasparini, P. A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. Europ. J. Hum. Genet. 11: 121-124, 2003. [PubMed: 12634859, related citations] [Full Text]
Shahin, H., Walsh, T., Rayyan, A. A., Lee, M. K., Higgins, J., Dickel, D., Lewis, K., Thompson, J., Baker, C., Nord, A. S., Stray, S., Gurwitz, D., Avraham, K. B., King, M.-C., Kanaan, M. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Europ. J. Hum. Genet. 18: 407-413, 2010. [PubMed: 19888295, images, related citations] [Full Text]
ORPHA: 90635; DO: 0110570;
Cytogenetic location: 9p22-p21 Genomic coordinates (GRCh38) : 9:14,200,001-33,200,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 9p22-p21 | Deafness, autosomal dominant 47 | 608652 | Autosomal dominant | 2 |
D'Adamo et al. (2003) reported a large, multigenerational southern Italian family with an autosomal dominant form of progressive postlingual sensorineural deafness. The hearing loss appeared to be caused by a completely penetrant mutation with a variable age of onset: age 30 to 35 years for the first symptoms, and age 20 to 25 years for the first audiometric abnormalities. An initial high frequency hearing loss progressed with age to include middle and lower frequencies, with a moderate to severe sensorineural deafness invariably present by about age 50. No vestibular dysfunction or other associated abnormalities were noted.
In a large Italian family with progressive postlingual sensorineural deafness, D'Adamo et al. (2003) identified linkage with a locus, designated DFNA47, on chromosome 9p22-p21 (maximum lod score of 3.67 at theta = 0.0 with D9S162). Using recombinants, they narrowed the candidate region to an approximately 9-cM region between D9S268 and D9S942.
Shahin et al. (2010) noted that the DFNA47 locus maps within the region of the DFNB83 locus (613685) and suggested that mutations in the same gene may be responsible for both the recessive and dominant hearing loss.
D'Adamo, P., Donaudy, F., D'Eustacchio, A., Di Iorio, E., Melchionda, S., Gasparini, P. A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. Europ. J. Hum. Genet. 11: 121-124, 2003. [PubMed: 12634859] [Full Text: https://doi.org/10.1038/sj.ejhg.5200929]
Shahin, H., Walsh, T., Rayyan, A. A., Lee, M. K., Higgins, J., Dickel, D., Lewis, K., Thompson, J., Baker, C., Nord, A. S., Stray, S., Gurwitz, D., Avraham, K. B., King, M.-C., Kanaan, M. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Europ. J. Hum. Genet. 18: 407-413, 2010. [PubMed: 19888295] [Full Text: https://doi.org/10.1038/ejhg.2009.190]
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