%607683
Table of Contents
Cytogenetic location: 5q31.1-q32 Genomic coordinates (GRCh38): 5:131,200,001-150,400,000
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
5q31.1-q32 | Deafness, autosomal dominant 52 | 607683 | AD | 2 |
Xia et al. (2002) described a Chinese family segregating bilateral, postlingual, progressive, and sensorineural nonsyndromic hearing impairment. High-frequency hearing loss began at the second or third decade and progressed to profound deafness involving all frequencies. No patients showed malformations of the inner ear by CT examination or abnormal function by vestibular testing.
In a Chinese pedigree segregating autosomal dominant nonsyndromic hearing loss, Xia et al. (2002) mapped the disorder to chromosome 5q31.1-q32. Fine mapping indicated that the disease gene was located within an 8.8-cM region between markers D5S2056 and D5S638, with a maximum 2-point lod score of 6.89 at D5S2017. No mutations were identified in the POU4F3 (602460) or DIAPH1 (602121) genes, both of which map to 5q31.
Qiong et al. (2008) sequenced the exons and intron-exon boundaries of 52 candidate genes in the 5q31 region in the patients described by Xia et al. (2002). Qiong et al. (2008) found 108 SNPs; however, none was identified as disease causing.
Xia et al. (2002) referred to the deafness locus that they located on 5q as DFNA42; however, the HUGO Nomenclature Committee assigned this deafness locus DFNA52.
Qiong, P., Hu, Z., Feng, Y., Pan, Q., Xia, J., Xia, K. Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus. J. Laryng. Otol. 122: 1029-1036, 2008. [PubMed: 18312703, related citations] [Full Text]
Xia, J., Deng, H., Feng, Y., Zhang, H., Pan, Q., Dai, H., Long, Z., Tang, B., Deng, H., Chen, Y., Zhang, R., Zheng, D., He, Y., Xia, K. A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. J. Hum. Genet. 47: 635-640, 2002. [PubMed: 12522684, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 90635; DO: 0110578;
Cytogenetic location: 5q31.1-q32 Genomic coordinates (GRCh38): 5:131,200,001-150,400,000
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
5q31.1-q32 | Deafness, autosomal dominant 52 | 607683 | Autosomal dominant | 2 |
Xia et al. (2002) described a Chinese family segregating bilateral, postlingual, progressive, and sensorineural nonsyndromic hearing impairment. High-frequency hearing loss began at the second or third decade and progressed to profound deafness involving all frequencies. No patients showed malformations of the inner ear by CT examination or abnormal function by vestibular testing.
In a Chinese pedigree segregating autosomal dominant nonsyndromic hearing loss, Xia et al. (2002) mapped the disorder to chromosome 5q31.1-q32. Fine mapping indicated that the disease gene was located within an 8.8-cM region between markers D5S2056 and D5S638, with a maximum 2-point lod score of 6.89 at D5S2017. No mutations were identified in the POU4F3 (602460) or DIAPH1 (602121) genes, both of which map to 5q31.
Qiong et al. (2008) sequenced the exons and intron-exon boundaries of 52 candidate genes in the 5q31 region in the patients described by Xia et al. (2002). Qiong et al. (2008) found 108 SNPs; however, none was identified as disease causing.
Xia et al. (2002) referred to the deafness locus that they located on 5q as DFNA42; however, the HUGO Nomenclature Committee assigned this deafness locus DFNA52.
Qiong, P., Hu, Z., Feng, Y., Pan, Q., Xia, J., Xia, K. Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus. J. Laryng. Otol. 122: 1029-1036, 2008. [PubMed: 18312703] [Full Text: https://doi.org/10.1017/S0022215107001582]
Xia, J., Deng, H., Feng, Y., Zhang, H., Pan, Q., Dai, H., Long, Z., Tang, B., Deng, H., Chen, Y., Zhang, R., Zheng, D., He, Y., Xia, K. A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. J. Hum. Genet. 47: 635-640, 2002. [PubMed: 12522684] [Full Text: https://doi.org/10.1007/s100380200098]
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