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A known mutation in GJB 6 in a large Chinese family with hidrotic ectodermal dysplasia
Author(s) -
Yang R.,
Hu ZL.,
Kong QT.,
Li WW.,
Zhang LL.,
Du X.,
Huang SY.,
Xia XY.,
Sang H.
Publication year - 2016
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.13600
Subject(s) - proband , missense mutation , genetics , gene , polymerase chain reaction , mutation , allele , medicine , biology , microbiology and biotechnology
Abstract Background Hidrotic ectodermal dysplasia ( HED ), also named as Clouston syndrome, is a rare autosomal dominant disease. Mutations in GJB 6, GJB 2 and GJA 1 are related to HED . Objective Summarize the clinical feature and analyse the mutation of the GJB 6 gene in a large Chinese family with HED .Methods We collected a very large Chinese family with HED . Clinical information was analysed. Blood samples were obtained. The whole coding region of GJB 6 was amplified by polymerase chain reaction and sequenced. The results were further confirmed at m RNA level by reverse transcription polymerase chain reaction. Results Sequence analysis identified a heterozygous missense mutation c.263C>T (p.A88V) in genomic DNA s of 25 patients, and this mutation was excluded from 14 normal individuals in this HED family and 218 unrelated, population‐matched control individuals. The transcription of mutated allele was confirmed by RT ‐ PCR of Cx30 m RNA from proband , s scalp skin. We found a novel phenotype of this variant in this Chinese HED family. Conclusion Our data reveals that a recurrent mutation p.A88V in GJB 6 played a pathogenic role in a large Chinese family and emphasizes the importance of gene test in this congenital disorder.