%606451
Table of Contents
HGNC Approved Gene Symbol: DFNA30
Cytogenetic location: 15q25-q26 Genomic coordinates (GRCh38) : 15:78,000,001-101,991,189
Mangino et al. (2001) reported a 4-generation Italian family segregating autosomal dominant progressive nonsyndromic hearing loss. Onset occurred between 10 and 40 years of age. Deafness first involved the higher frequencies and progressed to middle frequencies, resulting in a characteristic sloping audiogram.
Mangino et al. (2001) performed a genome scan with polymorphic microsatellite markers in an Italian family segregating autosomal dominant nonsyndromic hearing loss and mapped the disorder, designated DFNA30, to an 18-cM region on 15q25-q26 with a maximum 2-point lod score of 4.12 at theta = 0.00 for marker D15S1004. Haplotype and multipoint analysis identified a critical interval between markers D15S151 and D15S130. The critical region did not overlap with the DFNB16 locus (603720) but partially coincided with the otosclerosis-1 locus (OTSC1; 166800), leading the authors to suggest that the DFNA30 hearing impairment might be an allelic disease of OTSC1.
By sequence analysis of candidate genes mapping to the DFNA30 interval in members of an Italian family segregating nonsyndromic hearing loss, Mangino et al. (2001) found no mutations in the aggrecan-1 (155760) and PTD014 genes.
Mangino, M., Flex, E., Capon, F., Sangiuolo, F., Carraro, E., Gualandi, F., Mazzoli, M., Martini, A., Novelli, G., Dallapiccola, B. Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. Europ. J. Hum. Genet. 9: 667-671, 2001. [PubMed: 11571554, related citations] [Full Text]
HGNC Approved Gene Symbol: DFNA30
ORPHA: 90635; DO: 0110560;
Cytogenetic location: 15q25-q26 Genomic coordinates (GRCh38) : 15:78,000,001-101,991,189
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 15q25-q26 | Deafness, autosomal dominant 30 | 606451 | Autosomal dominant | 2 |
Mangino et al. (2001) reported a 4-generation Italian family segregating autosomal dominant progressive nonsyndromic hearing loss. Onset occurred between 10 and 40 years of age. Deafness first involved the higher frequencies and progressed to middle frequencies, resulting in a characteristic sloping audiogram.
Mangino et al. (2001) performed a genome scan with polymorphic microsatellite markers in an Italian family segregating autosomal dominant nonsyndromic hearing loss and mapped the disorder, designated DFNA30, to an 18-cM region on 15q25-q26 with a maximum 2-point lod score of 4.12 at theta = 0.00 for marker D15S1004. Haplotype and multipoint analysis identified a critical interval between markers D15S151 and D15S130. The critical region did not overlap with the DFNB16 locus (603720) but partially coincided with the otosclerosis-1 locus (OTSC1; 166800), leading the authors to suggest that the DFNA30 hearing impairment might be an allelic disease of OTSC1.
By sequence analysis of candidate genes mapping to the DFNA30 interval in members of an Italian family segregating nonsyndromic hearing loss, Mangino et al. (2001) found no mutations in the aggrecan-1 (155760) and PTD014 genes.
Mangino, M., Flex, E., Capon, F., Sangiuolo, F., Carraro, E., Gualandi, F., Mazzoli, M., Martini, A., Novelli, G., Dallapiccola, B. Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. Europ. J. Hum. Genet. 9: 667-671, 2001. [PubMed: 11571554] [Full Text: https://doi.org/10.1038/sj.ejhg.5200707]
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM