#603629
Table of Contents
A number sign (#) is used with this entry because of evidence that the autosomal recessive form of sensorineural prelingual nonsyndromic deafness designated DFNB21 is caused by mutation in the gene encoding alpha-tectorin (TECTA; 602574). Mutations in TECTA also result in autosomal dominant hearing loss (DFNA12; 601543).
Mustapha et al. (1999) studied a Lebanese family belonging to the Shiite community in which 9 members presented with a prelingual severe to profound sensorineural isolated form of deafness.
In a study of 2 consanguineous families with DFNB21, 1 from Iran and 1 from Pakistan, Naz et al. (2003) concluded that homozygosity for mutations in the TECTA gene is characterized by a distinctive flat to shallow U-shaped audiogram.
In 3 consanguineous Iranian families with DFNB21, Meyer et al. (2007) observed a similar phenotype characterized by prelingual, symmetric moderate to severe hearing loss across frequencies with a mid-frequency dip.
By linkage analysis in a Lebanese family segregating autosomal recessive nonsyndromic deafness, Mustapha et al. (1999) mapped the deafness locus, designated DFNB21, to chromosome 11q23-q25.
By sequence analysis of the TECTA gene in a Lebanese family segregating nonsyndromic deafness mapping to 11q23-q25, Mustapha et al. (1999) identified homozygosity for a donor splice site mutation (602574.0003).
In affected members from 2 consanguineous families with DFNB21, 1 from Iran and 1 from Pakistan, Naz et al. (2003) identified homozygosity for a 649insC (602574.0006) and 6037delG (602574.0007) mutation in the TECTA gene, respectively.
In 3 consanguineous Iranian families with autosomal recessive nonsyndromic hearing loss (NSHL) showing homozygosity by descent for the DFNB21 locus, Meyer et al. (2007) identified homozygosity for 3 different truncating mutations in the TECTA gene, respectively. The authors concluded that mutations in TECTA are a common cause of autosomal recessive NSHL in the Iranian population and result in a recognizable audioprofile.
Meyer, N. C., Alasti, F., Nishimura, C. J., Imanirad, P., Kahrizi, K., Riazalhosseini, Y., Malekpour, M., Kochakian, N., Jamali, P., Van Camp, G., Smith, R. J. H., Najmabadi, H. Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am. J. Med. Genet. 143A: 1623-1629, 2007. [PubMed: 17431902, related citations] [Full Text]
Mustapha, M., Weil, D., Chardenoux, S., Elias, S., El-Zir, E., Beckmann, J. S., Loiselet, J., Petit, C. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum. Molec. Genet. 8: 409-412, 1999. [PubMed: 9949200, related citations] [Full Text]
Naz, S., Alasti, F., Mowjoodi, A., Riazuddin, S., Sanati, M. H., Friedman, T. B., Griffith, A. J., Wilcox, E. R., Riazuddin, S. Distinctive audiometric profile associated with DFNB21 alleles of TECTA. J. Med. Genet. 40: 360-363, 2003. [PubMed: 12746400, related citations] [Full Text]
ORPHA: 90636; DO: 0110479;
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
11q23.3 | Deafness, autosomal recessive 21 | 603629 | Autosomal recessive | 3 | TECTA | 602574 |
A number sign (#) is used with this entry because of evidence that the autosomal recessive form of sensorineural prelingual nonsyndromic deafness designated DFNB21 is caused by mutation in the gene encoding alpha-tectorin (TECTA; 602574). Mutations in TECTA also result in autosomal dominant hearing loss (DFNA12; 601543).
Mustapha et al. (1999) studied a Lebanese family belonging to the Shiite community in which 9 members presented with a prelingual severe to profound sensorineural isolated form of deafness.
In a study of 2 consanguineous families with DFNB21, 1 from Iran and 1 from Pakistan, Naz et al. (2003) concluded that homozygosity for mutations in the TECTA gene is characterized by a distinctive flat to shallow U-shaped audiogram.
In 3 consanguineous Iranian families with DFNB21, Meyer et al. (2007) observed a similar phenotype characterized by prelingual, symmetric moderate to severe hearing loss across frequencies with a mid-frequency dip.
By linkage analysis in a Lebanese family segregating autosomal recessive nonsyndromic deafness, Mustapha et al. (1999) mapped the deafness locus, designated DFNB21, to chromosome 11q23-q25.
By sequence analysis of the TECTA gene in a Lebanese family segregating nonsyndromic deafness mapping to 11q23-q25, Mustapha et al. (1999) identified homozygosity for a donor splice site mutation (602574.0003).
In affected members from 2 consanguineous families with DFNB21, 1 from Iran and 1 from Pakistan, Naz et al. (2003) identified homozygosity for a 649insC (602574.0006) and 6037delG (602574.0007) mutation in the TECTA gene, respectively.
In 3 consanguineous Iranian families with autosomal recessive nonsyndromic hearing loss (NSHL) showing homozygosity by descent for the DFNB21 locus, Meyer et al. (2007) identified homozygosity for 3 different truncating mutations in the TECTA gene, respectively. The authors concluded that mutations in TECTA are a common cause of autosomal recessive NSHL in the Iranian population and result in a recognizable audioprofile.
Meyer, N. C., Alasti, F., Nishimura, C. J., Imanirad, P., Kahrizi, K., Riazalhosseini, Y., Malekpour, M., Kochakian, N., Jamali, P., Van Camp, G., Smith, R. J. H., Najmabadi, H. Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am. J. Med. Genet. 143A: 1623-1629, 2007. [PubMed: 17431902] [Full Text: https://doi.org/10.1002/ajmg.a.31718]
Mustapha, M., Weil, D., Chardenoux, S., Elias, S., El-Zir, E., Beckmann, J. S., Loiselet, J., Petit, C. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum. Molec. Genet. 8: 409-412, 1999. [PubMed: 9949200] [Full Text: https://doi.org/10.1093/hmg/8.3.409]
Naz, S., Alasti, F., Mowjoodi, A., Riazuddin, S., Sanati, M. H., Friedman, T. B., Griffith, A. J., Wilcox, E. R., Riazuddin, S. Distinctive audiometric profile associated with DFNB21 alleles of TECTA. J. Med. Genet. 40: 360-363, 2003. [PubMed: 12746400] [Full Text: https://doi.org/10.1136/jmg.40.5.360]
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