Mirghomizadeh et al. (2002) reported a 5-generation German family segregating nonsyndromic autosomal dominant hearing impairment. Affected individuals showed a progressive sensorineural hearing impairment, beginning in the first to the second decade and leading to severe to profound deafness ... Mirghomizadeh et al. (2002) reported a 5-generation German family segregating nonsyndromic autosomal dominant hearing impairment. Affected individuals showed a progressive sensorineural hearing impairment, beginning in the first to the second decade and leading to severe to profound deafness in the fourth decade of their lives.
MYH14 was considered a strong candidate gene for hearing loss because it was located within the candidate region of the DFNA4 locus defined by Chen et al. (1995) and Mirghomizadeh et al. (2002). Donaudy et al. (2004) performed ... MYH14 was considered a strong candidate gene for hearing loss because it was located within the candidate region of the DFNA4 locus defined by Chen et al. (1995) and Mirghomizadeh et al. (2002). Donaudy et al. (2004) performed mutation screening of the MYH14 gene in 300 hearing-impaired patients from Italy, Spain, and Belgium, and in a German kindred linked to DFNA4. They identified 1 nonsense (608568.0001) and 2 missense (608568.0002-608568.0003) mutations in large pedigrees linked to DFNA4, as well as a de novo allele in a sporadic case (608568.0004). In affected members of a 4-generation German family with autosomal dominant nonsyndromic hearing loss, Yang et al. (2005) identified a missense mutation in the MYH14 gene (608568.0005). However, complete screening of the American family that originally defined the DFNA4 locus (Chen et al., 1995) revealed no mutations in the coding region of the MYH14 gene; genotyping of SNPs close to the MYH14 gene excluded it from the candidate region and defined a 19-Mb interval demarcated by D19S414 and SNP dbSNP rs648298. Yang et al. (2005) concluded that a second gene associated with autosomal dominant nonsyndromic deafness links to the DFNA4 locus (see DFNA4B, 614614).