https://scholars.lib.ntu.edu.tw/handle/123456789/562852
標題: | Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2 | 作者: | PAUL-CHEN HSIEH Chen-Chi Wu NI-CHUNG LEE JUNG-HSIEN HSIEH YI-HUA LIAO |
關鍵字: | connexin 26 | palmoplantar keratoderma | pseudoainhum | sensorineural hearing loss | Vohwinkel syndrome | 公開日期: | 1-十月-2020 | 卷: | 38 | 期: | 4 | 來源出版物: | Dermatologica Sinica | 摘要: | Vohwinkel syndrome is a rare autosomal dominant disease caused by GJB2 mutations. Patients present with sensorineural deafness, pseudoainhum, stellate keratosis on knuckles, and diffuse honeycombed palmoplantar keratoderma. We present a case of a Taiwanese patient with characteristics of Vohwinkel syndrome. A heterozygous missense mutation c.175G > C (p.Gly59Arg) was identified in the GJB2 gene, encoding the gap junction protein connexin 26. Pathogenic GJB2 mutations have been implicated in a spectrum of diseases from nonsyndromic hearing loss to syndromic hearing loss with palmoplantar keratoderma. This report expands the phenotypic spectrum of the p.Gly59Arg mutation to include Vohwinkel syndrome. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/562852 | ISSN: | 10278117 | DOI: | 10.4103/ds.ds_14_20 | SDG/關鍵字: | connexin 26; terbinafine; adult; Article; audiometry; autosomal dominant disorder; case report; clinical article; congenital deafness; dermatophytosis; diffuse palmoplantar keratoderma; female; genetic association; heterozygote; human; hyperkeratosis; missense mutation; perception deafness; pseudoainhum; Sanger sequencing; Taiwanese; Vohwinkel syndrome |
顯示於: | 醫學系 |
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