A case of hidrotic ectodermal dysplasia with pseudo-ainhum and detection of connexin gene mutations / 中华皮肤科杂志

ABSTRACT

Objective To detect the mutations in connexin genes in a family with hidrotic ectodermal dysplasia(HED)complicated by pseudo-ainhum.Methods Peripheral blood samples were collected from a 20-year-old patient with HED complicated by pseudo-ainhum,and from his unaffected sister.Total DNA was extracted from these samples,and PCR was performed to amplify the partial coding region of GJB2,GJB5 and GJB6 genes.Subsequently.PCR products were bidirectionally sequenced in both subjects.Results No mutation was detected in GJB5 or GJB6 gene in either subjects.Two mutations (V27I and V37I)were detected in the GJB2 gene in the patient but not in his sister.Conclusion The mutation in the GJB6 gene may be absent in patients with HED;there might be other genes involved in the pathogenesis.