Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal dominant non-syndromic hearing loss (DFNA3). In addit...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2017-01-01
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| Series: | Acta Oto-Laryngologica Case Reports |
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| Online Access: | http://dx.doi.org/10.1080/23772484.2017.1376587 |
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| author | Yasuhiro Arai Masahiro Takahashi Naoko Sakuma Shin-Ya Nisio Nobuhiko Oridate Shin-Ichi Usami |
| author_facet | Yasuhiro Arai Masahiro Takahashi Naoko Sakuma Shin-Ya Nisio Nobuhiko Oridate Shin-Ichi Usami |
| author_sort | Yasuhiro Arai |
| collection | DOAJ |
| description | GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal dominant non-syndromic hearing loss (DFNA3). In addition, this gene is also associated with skin homeostasis and some mutations in this gene cause autosomal dominant syndromic hearing loss with skin disorders (Keratitis-ichthyosis-deafness syndrome, Hystrix-like icthyosis-deafness syndrome, Palmoplantar keratoderma with deafness syndrome, Vohwinkel syndrome and Bart–Pumphrey syndrome). Herein we report a Japanese sensorineural hearing loss patient with palmoplantar keratoderma who carries a rare compound heterozygote of autosomal dominant and autosomal recessive GJB2 gene mutations. This is the first report of GJB2-associated hearing loss with palmoplantar keratoderma caused by compound heterozygous autosomal dominant and autosomal recessive GJB2 gene mutations in a Japanese patient. |
| first_indexed | 2024-12-23T05:30:32Z |
| format | Article |
| id | doaj.art-cdf9bb0ce1e145bebd692cfe0dd24350 |
| institution | Directory Open Access Journal |
| issn | 2377-2484 |
| language | English |
| last_indexed | 2024-12-23T05:30:32Z |
| publishDate | 2017-01-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Acta Oto-Laryngologica Case Reports |
| spelling | doaj.art-cdf9bb0ce1e145bebd692cfe0dd243502022-12-21T17:58:30ZengTaylor & Francis GroupActa Oto-Laryngologica Case Reports2377-24842017-01-012113714010.1080/23772484.2017.13765871376587Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratodermaYasuhiro Arai0Masahiro Takahashi1Naoko Sakuma2Shin-Ya Nisio3Nobuhiko Oridate4Shin-Ichi Usami5School of Medicine, Yokohama City UniversitySchool of Medicine, Yokohama City UniversitySchool of Medicine, Yokohama City UniversityShinshu University School of MedicineSchool of Medicine, Yokohama City UniversityShinshu University School of MedicineGJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal dominant non-syndromic hearing loss (DFNA3). In addition, this gene is also associated with skin homeostasis and some mutations in this gene cause autosomal dominant syndromic hearing loss with skin disorders (Keratitis-ichthyosis-deafness syndrome, Hystrix-like icthyosis-deafness syndrome, Palmoplantar keratoderma with deafness syndrome, Vohwinkel syndrome and Bart–Pumphrey syndrome). Herein we report a Japanese sensorineural hearing loss patient with palmoplantar keratoderma who carries a rare compound heterozygote of autosomal dominant and autosomal recessive GJB2 gene mutations. This is the first report of GJB2-associated hearing loss with palmoplantar keratoderma caused by compound heterozygous autosomal dominant and autosomal recessive GJB2 gene mutations in a Japanese patient.http://dx.doi.org/10.1080/23772484.2017.1376587GJB2hearing losspalmoplantar keratodermaautosomal dominantautosomal recessive |
| spellingShingle | Yasuhiro Arai Masahiro Takahashi Naoko Sakuma Shin-Ya Nisio Nobuhiko Oridate Shin-Ichi Usami Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma Acta Oto-Laryngologica Case Reports GJB2 hearing loss palmoplantar keratoderma autosomal dominant autosomal recessive |
| title | Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma |
| title_full | Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma |
| title_fullStr | Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma |
| title_full_unstemmed | Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma |
| title_short | Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma |
| title_sort | compound heterozygous dominant and recessive gjb2 mutations cause deafness with palmoplantar keratoderma |
| topic | GJB2 hearing loss palmoplantar keratoderma autosomal dominant autosomal recessive |
| url | http://dx.doi.org/10.1080/23772484.2017.1376587 |
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