%608394
Table of Contents
HGNC Approved Gene Symbol: DFNA43
Cytogenetic location: 2p12 Genomic coordinates (GRCh38) : 2:74,800,001-83,100,000
Flex et al. (2003) reported a 3-generation Italian family in which 15 members were affected with autosomal dominant nonsyndromic sensorineural deafness. The hearing loss, which was bilateral and symmetrical, began in the second decade of life, progressing from moderate to profound loss and ultimately involving all frequencies.
Flex et al. (2003) performed a genomewide scan in an Italian family with nonsyndromic sensorineural loss and demonstrated significant linkage with markers on chromosome 2p12 (maximum lod = 4.21 at theta = 0.0 for marker D2S139). Haplotype analysis defined a 9.6-cM disease gene interval without overlap with other identified loci.
Flex, E., Mangino, M., Mazzoli, M., Martini, A., Migliosi, V., Colosimo, A., Mingarelli, R., Pizzuti, A., Dallapiccola, B. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. J. Med. Genet. 40: 278-282, 2003. [PubMed: 12676899, related citations] [Full Text]
HGNC Approved Gene Symbol: DFNA43
ORPHA: 90635; DO: 0110568;
Cytogenetic location: 2p12 Genomic coordinates (GRCh38) : 2:74,800,001-83,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 2p12 | Deafness, autosomal dominant 43 | 608394 | Autosomal dominant | 2 |
Flex et al. (2003) reported a 3-generation Italian family in which 15 members were affected with autosomal dominant nonsyndromic sensorineural deafness. The hearing loss, which was bilateral and symmetrical, began in the second decade of life, progressing from moderate to profound loss and ultimately involving all frequencies.
Flex et al. (2003) performed a genomewide scan in an Italian family with nonsyndromic sensorineural loss and demonstrated significant linkage with markers on chromosome 2p12 (maximum lod = 4.21 at theta = 0.0 for marker D2S139). Haplotype analysis defined a 9.6-cM disease gene interval without overlap with other identified loci.
Flex, E., Mangino, M., Mazzoli, M., Martini, A., Migliosi, V., Colosimo, A., Mingarelli, R., Pizzuti, A., Dallapiccola, B. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. J. Med. Genet. 40: 278-282, 2003. [PubMed: 12676899] [Full Text: https://doi.org/10.1136/jmg.40.4.278]
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