Department of Dermatology, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Hereditas. 2020 Aug 25;157(1):34. doi: 10.1186/s41065-020-00148-8.
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.
汗孔外胚层发育不良（HED）是一种罕见的遗传性综合征，其特征为指甲营养不良、掌跖过度角化和脱发。在不同人群中，连接蛋白 30 编码基因间隙连接β 6（GJB6）中的四个突变（p.G11R、p.A88V、p.V37E 和 p.D50N）已被发现可导致 HED。在这里，我们报道了一个中国大家庭，五代中有 24 名患者患有 HED。序列分析确定所有 24 名患者携带 GJB6 中重复的错义突变 c.263C>T（p.A88V）。我们的研究结果表明，对 GJB6 进行基因检测对于 HED 的诊断、产前诊断和未来的基因治疗非常重要。
