#600652
Table of Contents
A number sign (#) is used with this entry because autosomal dominant nonsyndromic deafness-4A (DFNA4A) is caused by heterozygous mutation in the MYH14 gene (608568) on chromosome 19q13.33.
DFNA4B (614614), another autosomal dominant nonsyndromic deafness phenotype mapping to chromosome 19q13, is caused by mutation in the CEACAM16 gene (614591) at 19q13.32.
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.
Using polymorphic microsatellite markers in a linkage study of a family segregating autosomal dominant nonsyndromic deafness, Chen et al. (1995) mapped the disorder locus, which they designated DFNA4, to chromosome 19q13.
In a 5-generation German family segregating nonsyndromic autosomal dominant hearing impairment, Mirghomizadeh et al. (2002) performed a genomewide scan with microsatellite polymorphisms and found linkage to markers in the 19q13.3-q13.4 region. Key recombinations were identified in the family, reducing the disease-specific haplotype to a 14-cM interval between markers D19S412 and D19S571. This region showed partial overlap with the previously reported DFNA4 critical region (Chen et al. (1995)). The BAX gene (600040) mapped to the disease-specific interval, but genomic sequencing of the coding regions and exon/intron boundaries excluded disease-related mutations.
The transmission pattern of DFNA4A in the families reported by Donaudy et al. (2004) was consistent with autosomal dominant inheritance.
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 rs648298. Yang et al. (2005) concluded that a second gene associated with autosomal dominant nonsyndromic deafness links to the DFNA4 locus (see DFNA4B, 614614).
Chen, A. H., Ni, L., Fukushima, K., Marietta, J., O'Neill, M., Coucke, P., Willems, P., Smith, R. J. H. Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum. Molec. Genet. 4: 1073-1076, 1995. [PubMed: 7655461, related citations] [Full Text]
Donaudy, F., Snoeckx, R., Pfister, M., Zenner, H.-P., Blin, N., Di Stazio, M., Ferrara, A., Lanzara, C., Ficarella, R., Declau, F., Pusch, C. M., Nurnberg, P., Melchionda, S., Zelante, L., Ballana, E., Estivill, X., Van Camp, G., Gasparini, P., Savoia, A. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am. J. Hum. Genet. 74: 770-776, 2004. [PubMed: 15015131, images, related citations] [Full Text]
Mirghomizadeh, F., Bardtke, B., Devoto, M., Pfister, M., Oeken, J., Konig, E., Vitale, E., Riccio, A., De Rienzo, A., Zenner, H. P., Blin, N. Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. Europ. J. Hum. Genet. 10: 95-99, 2002. [PubMed: 11938438, related citations] [Full Text]
Yang, T., Pfister, M., Blin, N., Zenner, H. P., Pusch, C. M., Smith, R. J. H. Genetic heterogeneity of deafness phenotypes linked to DFNA4. Am. J. Med. Genet. 139A: 9-12, 2005. [PubMed: 16222661, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 90635; DO: 0110573;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 19q13.33 | Deafness, autosomal dominant 4A | 600652 | Autosomal dominant | 3 | MYH14 | 608568 |
A number sign (#) is used with this entry because autosomal dominant nonsyndromic deafness-4A (DFNA4A) is caused by heterozygous mutation in the MYH14 gene (608568) on chromosome 19q13.33.
DFNA4B (614614), another autosomal dominant nonsyndromic deafness phenotype mapping to chromosome 19q13, is caused by mutation in the CEACAM16 gene (614591) at 19q13.32.
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.
Using polymorphic microsatellite markers in a linkage study of a family segregating autosomal dominant nonsyndromic deafness, Chen et al. (1995) mapped the disorder locus, which they designated DFNA4, to chromosome 19q13.
In a 5-generation German family segregating nonsyndromic autosomal dominant hearing impairment, Mirghomizadeh et al. (2002) performed a genomewide scan with microsatellite polymorphisms and found linkage to markers in the 19q13.3-q13.4 region. Key recombinations were identified in the family, reducing the disease-specific haplotype to a 14-cM interval between markers D19S412 and D19S571. This region showed partial overlap with the previously reported DFNA4 critical region (Chen et al. (1995)). The BAX gene (600040) mapped to the disease-specific interval, but genomic sequencing of the coding regions and exon/intron boundaries excluded disease-related mutations.
The transmission pattern of DFNA4A in the families reported by Donaudy et al. (2004) was consistent with autosomal dominant inheritance.
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 rs648298. Yang et al. (2005) concluded that a second gene associated with autosomal dominant nonsyndromic deafness links to the DFNA4 locus (see DFNA4B, 614614).
Chen, A. H., Ni, L., Fukushima, K., Marietta, J., O'Neill, M., Coucke, P., Willems, P., Smith, R. J. H. Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum. Molec. Genet. 4: 1073-1076, 1995. [PubMed: 7655461] [Full Text: https://doi.org/10.1093/hmg/4.6.1073]
Donaudy, F., Snoeckx, R., Pfister, M., Zenner, H.-P., Blin, N., Di Stazio, M., Ferrara, A., Lanzara, C., Ficarella, R., Declau, F., Pusch, C. M., Nurnberg, P., Melchionda, S., Zelante, L., Ballana, E., Estivill, X., Van Camp, G., Gasparini, P., Savoia, A. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am. J. Hum. Genet. 74: 770-776, 2004. [PubMed: 15015131] [Full Text: https://doi.org/10.1086/383285]
Mirghomizadeh, F., Bardtke, B., Devoto, M., Pfister, M., Oeken, J., Konig, E., Vitale, E., Riccio, A., De Rienzo, A., Zenner, H. P., Blin, N. Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. Europ. J. Hum. Genet. 10: 95-99, 2002. [PubMed: 11938438] [Full Text: https://doi.org/10.1038/sj.ejhg.5200769]
Yang, T., Pfister, M., Blin, N., Zenner, H. P., Pusch, C. M., Smith, R. J. H. Genetic heterogeneity of deafness phenotypes linked to DFNA4. Am. J. Med. Genet. 139A: 9-12, 2005. [PubMed: 16222661] [Full Text: https://doi.org/10.1002/ajmg.a.30989]
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