Kirshhofer et al. (1995, 1998) reported an Austrian family in which 11 individuals spanning 4 generations had autosomal dominant nonsyndromic sensorineural deafness. The hearing loss was moderate to severe, showed prelingual onset, and was relatively stable or nonprogressive. ... Kirshhofer et al. (1995, 1998) reported an Austrian family in which 11 individuals spanning 4 generations had autosomal dominant nonsyndromic sensorineural deafness. The hearing loss was moderate to severe, showed prelingual onset, and was relatively stable or nonprogressive. The degree of hearing impairment was similar in all affected members, regardless of age or sex. Pure tone audiometry showed hearing loss between 60 and 80 dB, with a maximum at 2,000 Hz (severe range 1,000 to 6,000 kHz) and a U-shaped curve. The disorder in this family was designated DFNA8. The studies indicated a cochlear lesion. Verhoeven et al. (1997) reported a Belgian family with autosomal dominant mid-frequency (500 to 2,000 Hz) hearing loss with prelingual onset. There was no progression with age. Hearing loss ranged from mild to moderately severe. The disorder in this family was designated DFNA12. Kirshhofer et al. (1998) contended that the phenotypes of the Austrian family reported by them and the Belgian family reported by Verhoeven et al. (1997) were slightly different. Whereas there was little interindividual variability in the Austrian family, the Belgian family showed interindividual variability. However, Mustapha et al. (1999) concluded that DFNA8 and DFNA12 represent the same form of autosomal dominant deafness. Balciuniene et al. (1998, 1999) reported a large Swedish family with autosomal dominant nonsyndromic hearing loss of postlingual onset. Nine individuals had a more severe phenotype, with severe hearing loss with onset at a mean age of 9 years. Audiogram showed decreased hearing particularly at high frequencies (6 to 8 kHz) with up to an 80-dB drop at age 50. Some individuals had a milder phenotype, with mild hearing loss only at high frequencies (4 to 6 kHz) with a mean age of onset at 19 years. The hearing loss was progressive. Moreno-Pelayo et al. (2001) reported a Spanish family in which 9 members had sensorineural nonsyndromic deafness. Onset was postlingual, occurring in the first or second decades. Audiometric testing showed mid frequency hearing loss, a U-shaped audiogram, and progressive hearing loss. Genetic analysis identified a heterozygous mutation in the TECTA gene (602574.0008). Meyer et al. (2007) reported a family segregating 2 forms of deafness: autosomal dominant DFNA12 and autosomal recessive DFNB1 (220290). Analysis of audiograms by audioprofiling suggested that 2 sibs in the family had a different form of deafness compared to the others. Molecular genetic studies identified a heterozygous mutation in the TECTA gene (C1837R; 602574.0008) in those with mid to high frequency hearing loss, a U-shaped audiogram, and childhood onset; the 2 sibs with down-sloping high-frequency hearing loss and childhood onset were found to be compound heterozygous for 2 mutations in the GJB2 gene (L90P; 121011.0016 and V37I; 121011.0023). Meyer et al. (2007) emphasized the utility of audiogram profiling in heritable hearing loss to determine candidate gene involvement.
Applying statistical analysis, Plantinga et al. (2006) found a significant association between TECTA mutations in the zona pellucida and zona adhesin domains and mid and high frequency hearing impairment, respectively. Cysteine-replacing mutations were associated with progressive hearing impairment. ... Applying statistical analysis, Plantinga et al. (2006) found a significant association between TECTA mutations in the zona pellucida and zona adhesin domains and mid and high frequency hearing impairment, respectively. Cysteine-replacing mutations were associated with progressive hearing impairment.
In affected members of the Belgian family with DFNA12 reported by Verhoeven et al. (1997, 1997), Verhoeven et al. (1998) identified a heterozygous mutation in the TECTA gene (602574.0001).
In affected members of the Austrian family ... In affected members of the Belgian family with DFNA12 reported by Verhoeven et al. (1997, 1997), Verhoeven et al. (1998) identified a heterozygous mutation in the TECTA gene (602574.0001). In affected members of the Austrian family with DFNA8 reported by Kirshhofer et al. (1995, 1998), Verhoeven et al. (1998) identified a heterozygous mutation in the TECTA gene (Y1870C; 602574.0002). In the kindred reported by Balciuniene et al. (1998), Balciuniene et al. (1999) identified a heterozygous mutation in the TECTA gene (C1057S; 602574.0004). The mutation was present in all severely affected individuals and in some mildly affected individuals.