Liao Ming-Yi, Peng Hui, Li Long-Nian, Yang Tao, Xiong Shi-Yin, Ye Xiao-Ying
Department of Dermatology, First Affiliated Hospital of Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
Department of Dermatology, Ganzhou People's Hospital, Ganzhou 341000, Jiangxi Province, China.
World J Clin Cases. 2023 Feb 26;11(6):1403-1409. doi: 10.12998/wjcc.v11.i6.1403.
We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia (HED) with a variation in (c.31G>A). The patients in the family had a triad of clinical manifestations of varying degrees. Although the same variation locus have been reported, the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder, palmoplantar keratosis, and congenital hypotrichosis.
This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED. The proband (IV4) was a male patient with normal sweat gland function and dental development, no skeletal dysplasia, no cognitive disability, and no hearing impairments. His parents were not consanguineously married. Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longitudinal ridges, in addition to mild bilateral palmoplantar hyperkeratosis. , , and have been reported to be the causative genes of HED; therefore, we subjected the patient's samples to Sanger sequencing of these three genes. In this family, the variation locus was at (c.31G>A, p.Gly11Arg). Overexpression vectors of wild-type and its variants were established and transfected into HaCaT cell models, and the related mRNA and protein expression changes were determined using real-time reverse transcriptase-polymerase chain reaction and Western blot, respectively.
We report another HED phenotype associated with variations, which can help clinicians to diagnose HED despite its varying presentations.
我们报告了一个中国汉族的大汗腺外胚层发育不良（HED）大家族，其存在（c.31G>A）变异。该家族中的患者有一系列不同程度的临床表现。尽管已报道过相同的变异位点，但该家族的临床表现难以与先天性厚甲症、掌跖角化病和先天性少毛症相区分。
本研究涉及一个五代46名成员的中国大家庭，其中包括12名HED患者。先证者（IV4）为男性患者，汗腺功能和牙齿发育正常，无骨骼发育异常，无认知障碍，无听力损害。他的父母非近亲结婚。对先证者的体格检查发现其头发稀疏，指甲和趾甲增厚呈灰黄色，有一些纵嵴，此外还有轻度双侧掌跖角化过度。 、 和 已被报道为HED的致病基因；因此，我们对患者样本进行了这三个基因的桑格测序。在这个家族中，变异位点位于 （c.31G>A，p.Gly11Arg）。构建了野生型 及其变体的过表达载体，并将其转染到HaCaT细胞模型中，分别使用实时逆转录-聚合酶链反应和蛋白质免疫印迹法测定相关mRNA和蛋白质表达的变化。
我们报告了另一种与变异相关的HED表型，这有助于临床医生诊断HED，尽管其表现各异。
