%614211
Table of Contents
Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:109,600,001-114,364,328
Bonsch et al. (2009) reported a 4-generation German family with postlingual onset of nonsyndromic progressive sensorineural hearing loss. Affected individuals had onset in the second to third decade of life of hearing loss first affecting high frequencies and then affecting lower frequencies. The audiogram of older individuals was flat. Four patients reported tinnitus, but none had vestibular signs.
The transmission pattern of hearing loss in the family reported by Bonsch et al. (2009) was consistent with autosomal dominant inheritance.
By genomewide linkage analysis of a German family with autosomal dominant nonsyndromic hearing loss, Bonsch et al. (2009) identified a 6-cM locus, termed DFNA33, on chromosome 13q34-qter. A maximum 2-point lod score of 2.96 was obtained at marked D13S285, with a maximum multipoint lod score of 3.28 at 124.56 cM.
Bonsch, D., Schmidt, C.-M., Scheer, P., Bohlender, J., Neumann, C., Zehnhoff-Dinnesen, A., Deufel, T. Ein neuer Genort fur eine autosomal-dominante, nichtsyndromale Schwerhorigkeit (DFNA33) liegt auf Chromosom 13q34-qter. HNO 57: 371-376, 2009. [PubMed: 19183916, related citations] [Full Text]
ORPHA: 90635; DO: 0110562;
Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:109,600,001-114,364,328
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
13q34 | Deafness, autosomal dominant 33 | 614211 | Autosomal dominant | 2 |
Bonsch et al. (2009) reported a 4-generation German family with postlingual onset of nonsyndromic progressive sensorineural hearing loss. Affected individuals had onset in the second to third decade of life of hearing loss first affecting high frequencies and then affecting lower frequencies. The audiogram of older individuals was flat. Four patients reported tinnitus, but none had vestibular signs.
The transmission pattern of hearing loss in the family reported by Bonsch et al. (2009) was consistent with autosomal dominant inheritance.
By genomewide linkage analysis of a German family with autosomal dominant nonsyndromic hearing loss, Bonsch et al. (2009) identified a 6-cM locus, termed DFNA33, on chromosome 13q34-qter. A maximum 2-point lod score of 2.96 was obtained at marked D13S285, with a maximum multipoint lod score of 3.28 at 124.56 cM.
Bonsch, D., Schmidt, C.-M., Scheer, P., Bohlender, J., Neumann, C., Zehnhoff-Dinnesen, A., Deufel, T. Ein neuer Genort fur eine autosomal-dominante, nichtsyndromale Schwerhorigkeit (DFNA33) liegt auf Chromosom 13q34-qter. HNO 57: 371-376, 2009. [PubMed: 19183916] [Full Text: https://doi.org/10.1007/s00106-008-1832-9]
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