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CASE REPORT
Year : 2020  |  Volume : 38  |  Issue : 4  |  Page : 228-231

Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2


1 Department of Dermatology, National Taiwan University Hospital, Taipei, Taiwan
2 Department of Otolaryngology; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
3 Department of Medical Genetics, National Taiwan University Hospital; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
4 Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan
5 Department of Dermatology, National Taiwan University Hospital; Department of Dermatology, National Taiwan University College of Medicine, Taipei, Taiwan

Correspondence Address:
Dr. Yi-Hua Liao
Department of Dermatology, National Taiwan University Hospital, Taipei, Taiwan, No. 7, Chung-Shan South Road, Taipei 10002
Taiwan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ds.ds_14_20

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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.


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