#604717
Table of Contents
A number sign (#) is used with this entry because this form of autosomal dominant progressive sensorineural hearing loss, DFNA20/26, is caused by heterozygous mutation in the gamma-actin gene (ACTG1; 102560) on chromosome 17q25.
Morell et al. (2000) reported a 3-generation family living in the U.S. Midwest in which some members had a bilateral, sloping, progressive, sensorineural hearing loss, first evident at 6,000 and 8,000 Hz. It was identified in some family members in the early teens but was clearly evident by the early twenties. The degree of hearing loss increased with age, and threshold shifts were seen at all frequencies.
DeWan et al. (2003) described another U.S. family in which affected members had sloping audiograms with mid- and high-frequency hearing loss, which progressed to hearing loss that affected all frequencies. Mean age at onset of hearing impairment was 13.2 years, with a standard deviation of 4.6 years.
Rendtorff et al. (2006) provided follow-up of a large Norwegian family originally reported by Teig (1968) with autosomal dominant sensorineural hearing loss spanning 7 generations. Age at onset was in the first or second decade of life. Hearing loss first affected high frequencies and progressed to involve all frequencies. Audiograms showed a sloping configuration with age, resulting in profound hearing loss. The rate of progression was variable, but most affected members in this family needed a hearing aid by age 20 years.
Using a genomewide screen, Morell et al. (2000) demonstrated linkage of the disorder, designated DFNA20, to chromosome 17q25. By haplotype analysis, they refined the DFNA20 critical region to 12 cM between D17S1806 and D17S668. Morell et al. (2000) noted that the mouse mutation jackson-shaker (js), which causes deafness and circling behavior, maps to a region of chromosome 11 that has homology with human 17q25.
Yang and Smith (2000) reported 2 unrelated American families with progressive autosomal dominant hearing loss that mapped to chromosome 17q25. They designated the locus DFNA26.
DeWan et al. (2003) found significant linkage to 17q25.3 (maximum 2-point lod score of 6.32) in a U.S. family with hearing loss. The authors concluded that DFNA20 and DFNA26 are probably the same or allelic disorders. They also noted that Usher syndrome type 1G (USH1G; 606943) maps to the same region and may be allelic.
In affected members of 4 families with autosomal dominant progressive sensorineural hearing loss (DFNA20/DFNA26), Zhu et al. (2003) identified heterozygous mutations in highly conserved regions of the ACTG1 gene (102560.0001-102560.0004). Three of the families had been reported by Yang and Smith (2000) and DeWan et al. (2003). The findings established that DFNA20 and DFNA26 are identical.
In affected members of a Dutch family with autosomal dominant deafness linked to the 17q25 region, Van Wijk et al. (2003) identified a mutation in the ACTG1 gene (102560.0005).
In 19 affected individuals of a large Norwegian family reported by Teig (1968), Rendtorff et al. (2006) identified a heterozygous mutation in the ACTG1 gene (102560.0006).
Morin et al. (2009) reported 2 Spanish families with autosomal deafness and identified heterozygous mutations (102560.0007 and 102560.0008, respectively) in the ACTG1 gene.
DeWan, A. T., Parrado, A. R., Leal, S. M. A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval. Clin. Genet. 63: 39-45, 2003. [PubMed: 12519370, images, related citations] [Full Text]
Morell, R. J., Friderici, K. H., Wei, S., Elfenbein, J. L., Friedman, T. B., Fisher, R. A. A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. Genomics 63: 1-6, 2000. [PubMed: 10662538, related citations] [Full Text]
Morin, M., Bryan, K. E., Mayo-Merino, F., Goodyear, R., Mencia, A., Modamio-Hoybjor, S., del Castillo, I., Cabalka, J. M., Richardson, G., Moreno, F., Rubenstein, P. A., Moreno-Pelayo, M. A. In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. Hum. Molec. Genet. 18: 3075-3089, 2009. [PubMed: 19477959, images, related citations] [Full Text]
Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A., Tranebjaerg, L. A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. Europ. J. Hum. Genet. 14: 1097-1105, 2006. [PubMed: 16773128, related citations] [Full Text]
Teig, E. Hereditary progressive perceptive deafness in a family of 72 patients. Acta Otolaryng. 65: 365-372, 1968. [PubMed: 5654493, related citations] [Full Text]
van Wijk, E., Krieger, E., Kemperman, M. H., De Leenheer, E. M. R., Huygen, P. L. M., Cremers, C. W. R. J., Cremers, F. P. M., Kremer, H. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J. Med. Genet. 40: 879-884, 2003. [PubMed: 14684684, related citations] [Full Text]
Yang, T., Smith, R. A novel locus DFNA26 maps to chromosome 17q25 in two unrelated families with progressive autosomal dominant hearing loss. (Abstract) Am. J. Hum. Genet. 67 (suppl. 2): 300 only, 2000.
Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am. J. Hum. Genet. 73: 1082-1091, 2003. [PubMed: 13680526, images, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 90635; DO: 0110550;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q25.3 | Deafness, autosomal dominant 20/26 | 604717 | Autosomal dominant | 3 | ACTG1 | 102560 |
A number sign (#) is used with this entry because this form of autosomal dominant progressive sensorineural hearing loss, DFNA20/26, is caused by heterozygous mutation in the gamma-actin gene (ACTG1; 102560) on chromosome 17q25.
Morell et al. (2000) reported a 3-generation family living in the U.S. Midwest in which some members had a bilateral, sloping, progressive, sensorineural hearing loss, first evident at 6,000 and 8,000 Hz. It was identified in some family members in the early teens but was clearly evident by the early twenties. The degree of hearing loss increased with age, and threshold shifts were seen at all frequencies.
DeWan et al. (2003) described another U.S. family in which affected members had sloping audiograms with mid- and high-frequency hearing loss, which progressed to hearing loss that affected all frequencies. Mean age at onset of hearing impairment was 13.2 years, with a standard deviation of 4.6 years.
Rendtorff et al. (2006) provided follow-up of a large Norwegian family originally reported by Teig (1968) with autosomal dominant sensorineural hearing loss spanning 7 generations. Age at onset was in the first or second decade of life. Hearing loss first affected high frequencies and progressed to involve all frequencies. Audiograms showed a sloping configuration with age, resulting in profound hearing loss. The rate of progression was variable, but most affected members in this family needed a hearing aid by age 20 years.
Using a genomewide screen, Morell et al. (2000) demonstrated linkage of the disorder, designated DFNA20, to chromosome 17q25. By haplotype analysis, they refined the DFNA20 critical region to 12 cM between D17S1806 and D17S668. Morell et al. (2000) noted that the mouse mutation jackson-shaker (js), which causes deafness and circling behavior, maps to a region of chromosome 11 that has homology with human 17q25.
Yang and Smith (2000) reported 2 unrelated American families with progressive autosomal dominant hearing loss that mapped to chromosome 17q25. They designated the locus DFNA26.
DeWan et al. (2003) found significant linkage to 17q25.3 (maximum 2-point lod score of 6.32) in a U.S. family with hearing loss. The authors concluded that DFNA20 and DFNA26 are probably the same or allelic disorders. They also noted that Usher syndrome type 1G (USH1G; 606943) maps to the same region and may be allelic.
In affected members of 4 families with autosomal dominant progressive sensorineural hearing loss (DFNA20/DFNA26), Zhu et al. (2003) identified heterozygous mutations in highly conserved regions of the ACTG1 gene (102560.0001-102560.0004). Three of the families had been reported by Yang and Smith (2000) and DeWan et al. (2003). The findings established that DFNA20 and DFNA26 are identical.
In affected members of a Dutch family with autosomal dominant deafness linked to the 17q25 region, Van Wijk et al. (2003) identified a mutation in the ACTG1 gene (102560.0005).
In 19 affected individuals of a large Norwegian family reported by Teig (1968), Rendtorff et al. (2006) identified a heterozygous mutation in the ACTG1 gene (102560.0006).
Morin et al. (2009) reported 2 Spanish families with autosomal deafness and identified heterozygous mutations (102560.0007 and 102560.0008, respectively) in the ACTG1 gene.
DeWan, A. T., Parrado, A. R., Leal, S. M. A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval. Clin. Genet. 63: 39-45, 2003. [PubMed: 12519370] [Full Text: https://doi.org/10.1034/j.1399-0004.2003.630106.x]
Morell, R. J., Friderici, K. H., Wei, S., Elfenbein, J. L., Friedman, T. B., Fisher, R. A. A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. Genomics 63: 1-6, 2000. [PubMed: 10662538] [Full Text: https://doi.org/10.1006/geno.1999.6058]
Morin, M., Bryan, K. E., Mayo-Merino, F., Goodyear, R., Mencia, A., Modamio-Hoybjor, S., del Castillo, I., Cabalka, J. M., Richardson, G., Moreno, F., Rubenstein, P. A., Moreno-Pelayo, M. A. In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. Hum. Molec. Genet. 18: 3075-3089, 2009. [PubMed: 19477959] [Full Text: https://doi.org/10.1093/hmg/ddp249]
Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A., Tranebjaerg, L. A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. Europ. J. Hum. Genet. 14: 1097-1105, 2006. [PubMed: 16773128] [Full Text: https://doi.org/10.1038/sj.ejhg.5201670]
Teig, E. Hereditary progressive perceptive deafness in a family of 72 patients. Acta Otolaryng. 65: 365-372, 1968. [PubMed: 5654493] [Full Text: https://doi.org/10.3109/00016486809120977]
van Wijk, E., Krieger, E., Kemperman, M. H., De Leenheer, E. M. R., Huygen, P. L. M., Cremers, C. W. R. J., Cremers, F. P. M., Kremer, H. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J. Med. Genet. 40: 879-884, 2003. [PubMed: 14684684] [Full Text: https://doi.org/10.1136/jmg.40.12.879]
Yang, T., Smith, R. A novel locus DFNA26 maps to chromosome 17q25 in two unrelated families with progressive autosomal dominant hearing loss. (Abstract) Am. J. Hum. Genet. 67 (suppl. 2): 300 only, 2000.
Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am. J. Hum. Genet. 73: 1082-1091, 2003. [PubMed: 13680526] [Full Text: https://doi.org/10.1086/379286]
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