%608372
Table of Contents
Cytogenetic location: 1q21-q23 Genomic coordinates (GRCh38) : 1:143,200,001-165,500,000
Moreno-Pelayo et al. (2003) reported a large Spanish family in which 14 members over 4 generations were affected with autosomal dominant nonsyndromic sensorineural hearing loss. Onset was in the first decade and was characterized by hearing loss that was moderate for low and mid frequencies and mild for high frequencies (4,000-8,000 Hz). Later, it progressed to moderate hearing loss in the 125-250 Hz and 4,000-8,000 Hz ranges, and to severe in the 500-2,000 Hz range in the fourth decade. Linear regression analysis showed a 0.7 dB/year age-linked progression of the hearing loss at all frequencies. Affected members did not exhibit tinnitus or vestibular dysfunction.
In a large Spanish family with nonsyndromic sensorineural hearing loss, Moreno-Pelayo et al. (2003) found linkage to a 4-cM region on chromosome 1q21-q23, between markers GDB:190880 and D1S3786 (maximum 2-point lod scores of 6.02 at markers D1S3784 and D1S3785). All affected members of the family shared the same disease haplotype. The authors noted that this locus, termed DFNA49, is clearly distinct from DFNA7 (601412) and DFNM1 (605429).
Moreno-Pelayo, M. A., Modamio-Hoybjor, S., Mencia, A., del Castillo, I., Chardenoux, S., Fernandez-Burriel, M., Lathrop, M., Petit, C., Moreno, F. DFNA49, a novel locus for autosomal dominant nonsyndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23. J. Med. Genet. 40: 832-836, 2003. Note: Erratum: J. Med. Genet. 41: 98 only, 2004. [PubMed: 14627674, related citations] [Full Text]
ORPHA: 90635; DO: 0110572;
Cytogenetic location: 1q21-q23 Genomic coordinates (GRCh38) : 1:143,200,001-165,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 1q21-q23 | Deafness, autosomal dominant 49 | 608372 | Autosomal dominant | 2 |
Moreno-Pelayo et al. (2003) reported a large Spanish family in which 14 members over 4 generations were affected with autosomal dominant nonsyndromic sensorineural hearing loss. Onset was in the first decade and was characterized by hearing loss that was moderate for low and mid frequencies and mild for high frequencies (4,000-8,000 Hz). Later, it progressed to moderate hearing loss in the 125-250 Hz and 4,000-8,000 Hz ranges, and to severe in the 500-2,000 Hz range in the fourth decade. Linear regression analysis showed a 0.7 dB/year age-linked progression of the hearing loss at all frequencies. Affected members did not exhibit tinnitus or vestibular dysfunction.
In a large Spanish family with nonsyndromic sensorineural hearing loss, Moreno-Pelayo et al. (2003) found linkage to a 4-cM region on chromosome 1q21-q23, between markers GDB:190880 and D1S3786 (maximum 2-point lod scores of 6.02 at markers D1S3784 and D1S3785). All affected members of the family shared the same disease haplotype. The authors noted that this locus, termed DFNA49, is clearly distinct from DFNA7 (601412) and DFNM1 (605429).
Moreno-Pelayo, M. A., Modamio-Hoybjor, S., Mencia, A., del Castillo, I., Chardenoux, S., Fernandez-Burriel, M., Lathrop, M., Petit, C., Moreno, F. DFNA49, a novel locus for autosomal dominant nonsyndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23. J. Med. Genet. 40: 832-836, 2003. Note: Erratum: J. Med. Genet. 41: 98 only, 2004. [PubMed: 14627674] [Full Text: https://doi.org/10.1136/jmg.40.11.832]
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