A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
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A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia Yi Zhan*† , Shuaihantian Luo†, Zixin Pi and Guiying Zhang*
Abstract Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different populations. Here, we reported a big Chinese family in which 24 patients over five generations were suffered with HED. Sequence analysis identified all 24 patients carry a recurrent missense mutation c.263C > T (p.A88V) in GJB6. Our results reveal gene testing of GJB6 is important for diagnosis, prenatal diagnosis and future gene treatment of HED. Keywords: Hidrotic ectodermal dysplasia, Gene mutations, Sequence analysis, GJB6
Introduction Hidrotic ectodermal dysplasia (HED) (OMIM: 129500), also called Clouston syndrome, is a rare autosomal dominant inherited syndrome [1]. In year of 1895, Nicolle and Hallipre first reported this disease [2]. HED occurs worldwide with a very low frequency of 1:100000 [3], while it is high frequent in French-Canadians, which may result from founder effect [4]. The main clinical manifestations of HED are nail dystrophy, alopecia and palmoplantar hyperkeratosis with normal sweat glands and teeth. Besides, eye abnormalities, sensorineural hearing loss, oral leukoplakia may also happen in some sporadic cases [1, 2, 5]. Previous studies have identified that mutations in the gap junction beta 6 (GJB6) gene encoding connexin30 (Cx30) protein was the main cause of HED. Based on gene analysis in different populations, it has been demonstrated that at least four mutation loci (p.G11R, p.A88V, p.V37E and p.D50N) in GJB6 can cause this disorder jointly or * Correspondence: [email protected]; [email protected] † Yi Zhan and Shuaihantian Luo contributed equally to this work. Department of Dermatology, The Second Xiangya Hospital of Central South University, Changsha 410011, China
independently [6–9]. In this article, we reported a big Chinese family in which 24 patients over five generations were suffered with HED. The proband is a 26year-old young female. Sequence analysis revealed she and other 23 family members all carry a recurrent missense mutation p.A88V (c.263C > T) in GJB6. We presented this case to highlight the pathogenic role of p.A88V mutation in GJB6 and emphasize the importance of gene testing in diagnosis, prenatal diagnosis and future gene treatment of HED.
Case history The big Chinese HED family is from Hunan Province including 33 patients (16 males and 17 females) over five generations (Fig. 1). The autosomal dominate inheritance can be observed in pedigree. The proband (IV9) is a 26-year-old young woman. Physical examination revealed that her fingernails and toenails are atrophic, short, thickened and brittle with pterygium formation (Fig. 2a, b). The skin all over her body is thickened and hy
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