先天性外胚层发育不良一家系基因突变检测

Detection of gene mutation in a family of congenital ectoderm dysplasia

报道一例先天性外胚层发育不良,该病是一种罕见的异质遗传性疾病,大多为X连锁遗传。本文患者全身毛发稀疏、无汗液分泌伴部分牙齿缺如49年,其女儿部分牙齿缺失,智力二级残疾。该患者基因检测发现突变位点EDA c.463C>T(p.R155C),另一可疑变异位点PRKD1 c.535+3A>G(splicing),变异来源是患者母亲。先天性外胚层发育不良目前尚无有效且获得批准的治疗方法,以对症治疗为主,及时产前筛查诊断可为携带EDA突变的患者提供终止妊娠和产前治疗的机会。

We report a case of congenital ectodermal dysplasia(Cectodermal dysplasia),a rare heterogeneous genetic disease,mostly X-linked.In this paper,a patient with sparse hair,no sweat secretion and partial tooth loss for 49 years was reported.His daughter had partial tooth loss and secondary intellectual disability.Genetic testing of the patient revealed a mutation site EDA c.463C>T(p.R155C),and another suspected mutation site PRKD1 c.535+3A>G(splicing),which were inherited from the patient s mother.There is no effective and approved treatment for congenital ectodermal dysplasia at present,and symptomatic treatment is the main treatment.Timely prenatal screening and diagnosis can provide the opportunity of termination of pregnancy and prenatal treatment for patients with EDA mutation.