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G59S mutation in the GJB 2 gene in a Chinese family with classic Vohwinkel syndrome
Author(s) -
Xie Mingxing,
Yang Weiping,
Luo Haojie,
Ismail Ferina,
Hao Yangyang,
Yang Jianqiang
Publication year - 2019
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.14727
Subject(s) - missense mutation , palmoplantar keratoderma , gene , genetics , mutation , connexin , biology , gap junction , intracellular
Vohwinkel syndrome ( VS ) is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. The LOR and GJB2 genes are reported to be responsible for VS . The GJB2 gene encodes connexin 26, a component of intercellular gap junctions expressed in various tissues. We report the case of a 31‐year‐old Chinese woman with classic VS characterized by sensorineural deafness and mutilating palmoplantar keratoderma. Further genetic studies demonstrated a nucleotide change (c.175G>A) in the GJB2 gene, leading to an amino acid alteration (G59S). This identical missense mutation (G59S) has also been reported in a patient with Bart–Pumphrey syndrome. Together with our findings and previous studies, we conclude that the identical mutation (G59S) in the GJB2 gene contributes to various manifestations.