#600974
Table of Contents
A number sign (#) is used with this entry because autosomal recessive deafness-7 (DFNB7), also known as DFNB11, is caused by homozygous mutation in the TMC1 gene (606706) on chromosome 9q21.
Autosomal dominant deafness-36 (DFNA36; 606705) is an allelic disorder.
Jain et al. (1995) described 2 consanguineous families from India segregating autosomal recessive neurosensory nonsyndromic hearing impairment. Affected individuals had profound prelingual sensorineural hearing impairment. Obligate heterozygous individuals had normal hearing.
Scott et al. (1996) reported 2 consanguineous Bedouin kindreds segregating profound prelingual bilateral sensorineural hearing impairment. All affected individuals were stated to have an otherwise normal phenotype.
Among a cohort of Japanese patients with autosomal recessive nonsyndromic hearing loss, Nishio and Usami (2022) showed severe to profound hearing loss of congenital onset without progression. No patients reported tinnitus and 1 patient reported vertigo.
Jain et al. (1995) studied 2 multiply affected inbred Indian families with neurosensory nonsyndromic hearing impairment and mapped a DFNB locus, DFNB7, to chromosome 9. Each family demonstrated a lod score greater than 4.5 for markers in the 9q13-q21 region. One of the flanking markers was D9S15, which is tightly linked to the Friedreich ataxia locus (229300). In mice the 'deafness' (dn) locus maps to chromosome 19 and flanking loci are syntenic to human 9q11-q21. The dn mutant shows profound deafness with degeneration of the organ of Corti, stria vascularis, and occasionally the saccular macula, starting at about 10 days after birth. The dn mouse is a possible model for DFNB7.
Scott et al. (1996) carried out linkage analysis in 2 inbred Bedouin kindreds with autosomal recessive nonsyndromic hearing loss. A genomewide linkage search revealed evidence for linkage with the markers D9S922 and D9S301 in chromosome 9q. Genotyping of individuals confirmed linkage with a maximum combined lod score of 26.2 at theta = 0.025 with the marker D9S927. The disease locus was mapped to the interval 9q13-q21. Although this cytogenetic map location is the same as that of DFNB7, the disease interval defined in the kindreds reported by Scott et al. (1996) lies between D9S15 and D9S927, with D9S15 defining the centromeric border. In the kindred reported by Jain et al. (1995) the DFNB7 interval was located between D9S50 and D9S15, with D9S15 defining the most telomeric border. Scott et al. (1996) concluded that the kindred reported by them may represent a novel form of nonsyndromic hearing loss. Alternatively, the new data represent a relocalization of the DFNB7 locus.
Van Camp et al. (1997) referred to the deafness in the family of Scott et al. (1996) as DFNB11 (the designation given the family by HUGO Nomenclature). Since the phenotype and chromosomal map location are the same as in the family of Jain et al. (1995), they were considered to have the same disorder.
Kurima et al. (2002) used positional cloning to identify the TMC1 gene as the site of mutations (606706.0001-606706.0003) causing autosomal recessive deafness that maps to 9q13-q21.
Kitajiri et al. (2007) identified mutations in the TMC1 gene (see, e.g., 606706.0004-606706.0006) in affected members of 10 Pakistani families with autosomal recessive DFNB7/11. They estimated that the R34X mutation (606706.0002) accounts for 1.8% of deafness in Pakistani families.
Hilgert et al. (2008) identified mutations in the TMC1 gene in 7 Turkish families with DFNB7/11. Mutations were not identified in 6 families showing linkage to the region, suggesting that they had mutations outside the coding region of the TMC1 gene or that there is another deafness-causing gene in this region.
From a cohort of approximately 12,000 Japanese nonsyndromic sensorineural hearing loss patients, Nishio and Usami (2022) identified 5 of 6,912 probands with autosomal recessive inheritance and mutation in the TMC1 gene, giving a 0.07% prevalence in this population.
Hilgert, N., Alasti, F., Dieltjens, N., Pawlik, B., Wollnik, B., Uyguner, O., Delmaghani, S., Weil, D., Petit, C., Danis, E., Yang, T., Pandelia, E., Petersen, M. B., Goossens, D., Favero, J. D., Sanati, M. H., Smith, R. J. H., Van Camp, G. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin. Genet. 74: 223-232, 2008. [PubMed: 18616530, images, related citations] [Full Text]
Jain, P. K., Fukushima, K., Deshmukh, D., Ramesh, A., Thomas, E., Lalwani, A. K., Kumar, S., Ploplis, B., Skarka, H., Srisailapathy, C. R. S., Wayne, S., Zbar, R. I. S., Verma, I. C., Smith, R. J. H., Wilcox, E. R. A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Hum. Molec. Genet. 4: 2391-2394, 1995. [PubMed: 8634715, related citations] [Full Text]
Kitajiri, S., McNamara, R., Makishima, T., Husnain, T., Zafar, A. U., Kittles, R. A., Ahmed, Z. M., Friedman, T. B., Riazuddin, S., Griffith, A. J. Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin. Genet. 72: 546-550, 2007. [PubMed: 17877751, related citations] [Full Text]
Kurima, K., Peters. L. M., Yang, Y., Riazuddin, S., Ahmed, Z. M., Naz, S., Arnaud, D., Drury, S., Mo, J., Makishima, T., Ghosh, M., Menon, P. S. N., and 13 others. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nature Genet. 30: 277-284, 2002. [PubMed: 11850618, related citations] [Full Text]
Nishio, S. Y., Usami, S. I. Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss. Hum. Genet. 141: 929-937, 2022. [PubMed: 34523024, images, related citations] [Full Text]
Scott, D. A., Carmi, R., Elbedour, K., Yosefsberg, S., Stone, E. M., Sheffield, V. C. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. 59: 385-391, 1996. [PubMed: 8755925, related citations]
Van Camp, G., Willems, P. J., Smith, R. J. H. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 60: 758-764, 1997. [PubMed: 9106521, related citations]
Alternative titles; symbols
ORPHA: 90636; DO: 0110520;
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
9q21.13 | Deafness, autosomal recessive 7 | 600974 | Autosomal recessive | 3 | TMC1 | 606706 |
A number sign (#) is used with this entry because autosomal recessive deafness-7 (DFNB7), also known as DFNB11, is caused by homozygous mutation in the TMC1 gene (606706) on chromosome 9q21.
Autosomal dominant deafness-36 (DFNA36; 606705) is an allelic disorder.
Jain et al. (1995) described 2 consanguineous families from India segregating autosomal recessive neurosensory nonsyndromic hearing impairment. Affected individuals had profound prelingual sensorineural hearing impairment. Obligate heterozygous individuals had normal hearing.
Scott et al. (1996) reported 2 consanguineous Bedouin kindreds segregating profound prelingual bilateral sensorineural hearing impairment. All affected individuals were stated to have an otherwise normal phenotype.
Among a cohort of Japanese patients with autosomal recessive nonsyndromic hearing loss, Nishio and Usami (2022) showed severe to profound hearing loss of congenital onset without progression. No patients reported tinnitus and 1 patient reported vertigo.
Jain et al. (1995) studied 2 multiply affected inbred Indian families with neurosensory nonsyndromic hearing impairment and mapped a DFNB locus, DFNB7, to chromosome 9. Each family demonstrated a lod score greater than 4.5 for markers in the 9q13-q21 region. One of the flanking markers was D9S15, which is tightly linked to the Friedreich ataxia locus (229300). In mice the 'deafness' (dn) locus maps to chromosome 19 and flanking loci are syntenic to human 9q11-q21. The dn mutant shows profound deafness with degeneration of the organ of Corti, stria vascularis, and occasionally the saccular macula, starting at about 10 days after birth. The dn mouse is a possible model for DFNB7.
Scott et al. (1996) carried out linkage analysis in 2 inbred Bedouin kindreds with autosomal recessive nonsyndromic hearing loss. A genomewide linkage search revealed evidence for linkage with the markers D9S922 and D9S301 in chromosome 9q. Genotyping of individuals confirmed linkage with a maximum combined lod score of 26.2 at theta = 0.025 with the marker D9S927. The disease locus was mapped to the interval 9q13-q21. Although this cytogenetic map location is the same as that of DFNB7, the disease interval defined in the kindreds reported by Scott et al. (1996) lies between D9S15 and D9S927, with D9S15 defining the centromeric border. In the kindred reported by Jain et al. (1995) the DFNB7 interval was located between D9S50 and D9S15, with D9S15 defining the most telomeric border. Scott et al. (1996) concluded that the kindred reported by them may represent a novel form of nonsyndromic hearing loss. Alternatively, the new data represent a relocalization of the DFNB7 locus.
Van Camp et al. (1997) referred to the deafness in the family of Scott et al. (1996) as DFNB11 (the designation given the family by HUGO Nomenclature). Since the phenotype and chromosomal map location are the same as in the family of Jain et al. (1995), they were considered to have the same disorder.
Kurima et al. (2002) used positional cloning to identify the TMC1 gene as the site of mutations (606706.0001-606706.0003) causing autosomal recessive deafness that maps to 9q13-q21.
Kitajiri et al. (2007) identified mutations in the TMC1 gene (see, e.g., 606706.0004-606706.0006) in affected members of 10 Pakistani families with autosomal recessive DFNB7/11. They estimated that the R34X mutation (606706.0002) accounts for 1.8% of deafness in Pakistani families.
Hilgert et al. (2008) identified mutations in the TMC1 gene in 7 Turkish families with DFNB7/11. Mutations were not identified in 6 families showing linkage to the region, suggesting that they had mutations outside the coding region of the TMC1 gene or that there is another deafness-causing gene in this region.
From a cohort of approximately 12,000 Japanese nonsyndromic sensorineural hearing loss patients, Nishio and Usami (2022) identified 5 of 6,912 probands with autosomal recessive inheritance and mutation in the TMC1 gene, giving a 0.07% prevalence in this population.
Hilgert, N., Alasti, F., Dieltjens, N., Pawlik, B., Wollnik, B., Uyguner, O., Delmaghani, S., Weil, D., Petit, C., Danis, E., Yang, T., Pandelia, E., Petersen, M. B., Goossens, D., Favero, J. D., Sanati, M. H., Smith, R. J. H., Van Camp, G. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin. Genet. 74: 223-232, 2008. [PubMed: 18616530] [Full Text: https://doi.org/10.1111/j.1399-0004.2008.01053.x]
Jain, P. K., Fukushima, K., Deshmukh, D., Ramesh, A., Thomas, E., Lalwani, A. K., Kumar, S., Ploplis, B., Skarka, H., Srisailapathy, C. R. S., Wayne, S., Zbar, R. I. S., Verma, I. C., Smith, R. J. H., Wilcox, E. R. A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Hum. Molec. Genet. 4: 2391-2394, 1995. [PubMed: 8634715] [Full Text: https://doi.org/10.1093/hmg/4.12.2391]
Kitajiri, S., McNamara, R., Makishima, T., Husnain, T., Zafar, A. U., Kittles, R. A., Ahmed, Z. M., Friedman, T. B., Riazuddin, S., Griffith, A. J. Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin. Genet. 72: 546-550, 2007. [PubMed: 17877751] [Full Text: https://doi.org/10.1111/j.1399-0004.2007.00895.x]
Kurima, K., Peters. L. M., Yang, Y., Riazuddin, S., Ahmed, Z. M., Naz, S., Arnaud, D., Drury, S., Mo, J., Makishima, T., Ghosh, M., Menon, P. S. N., and 13 others. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nature Genet. 30: 277-284, 2002. [PubMed: 11850618] [Full Text: https://doi.org/10.1038/ng842]
Nishio, S. Y., Usami, S. I. Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss. Hum. Genet. 141: 929-937, 2022. [PubMed: 34523024] [Full Text: https://doi.org/10.1007/s00439-021-02364-2]
Scott, D. A., Carmi, R., Elbedour, K., Yosefsberg, S., Stone, E. M., Sheffield, V. C. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. 59: 385-391, 1996. [PubMed: 8755925]
Van Camp, G., Willems, P. J., Smith, R. J. H. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 60: 758-764, 1997. [PubMed: 9106521]
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