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 ... 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 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 ... 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.