摘要
目的探讨1例Xq13.1缺失致EDA基因部分缺失的少汗性外胚层发育不良的临床表型及遗传学特点。方法分析1例少汗性外胚层发育不良患儿的临床资料,并进行染色体核型、家系全外显子组测序(trio-whole exome sequencing,trio-WES)、基因组拷贝数变异检查(copy number variations,CNV-seq),对分析得到的可疑致病位置进行父母验证,明确异常基因变异来源。结果先证者,男,7岁8月龄。头发稀少卷曲,眉毛浅淡稀疏,皮肤干燥,自幼易发热,少汗/无汗,牙齿尖、稀疏/部分缺失,鞍状鼻,前额突出,耳廓内收,癫痫发作。先证者常规染色体核型检查、全外显组测序未见异常;基因组拷贝数变异检查结果显示Xq13.1q13.1(chrX:g.68796566-69138468)位置存在约341.90 kb缺失,包含有EDA基因部分片段。经验证缺失区域来自先证者母亲,其临床表型为毛发正常,皮肤稍干燥,牙齿稀疏、脱落、钉状牙,基因组拷贝数变异检查检测到Xq13.1q13.1(chrX:g.68836154-69078250)位置存在约242.10 kb杂合缺失。结论先证者及其母亲均存在Xq13.1缺失致EDA基因部分片段缺失,母亲临床表型较轻,先证者临床症状较重,符合X连锁隐性遗传少汗性外胚层发育不良发病特点,EDA基因部分缺失很可能是导致先证者出现异常临床表型的原因。
Objective To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia(HED)due to partial deletion of EDA gene.Methods The child has presented with HED complicated with epilepsy.Family trio whole exome sequencing(Trio-WES),copy number variation sequencing(CNV-seq),and karyotype analysis were carried out to explore the underlying genetic etiology.Results The proband,a 7-year-and-8-month-old boy,presented with thin curly hair,thin and sparse eyebrow xerosis cutis,susceptibility to hyperthermia from childhood,hypohidrosis,sharp/sparse/absent teeth,saddle nose,prominent forehead,auricle adulation and seizure.He was found to have a normal chromosomal karyotype,and no abnormality was found by Trio-WES.Genome-wide CNV-seq revealed a 341.90 kb deletion at Xq13.1q13.1(chrX:68796566-69138468).As verified by PCR-electrophoresis,the deletion has removed part of the EDA gene.The deletion was derived from his mother with normal hair,mild xerosis cutis,sparse,decidulated and nail-like teeth.The mother was detected with a heterozygous 242.10 kb deletion at Xq13.1q13.1(chrX:68836154-69078250).Conclusion Both the proband and his mother carried a Xq13.1 microdeletion involving part of the EDA gene.The clinical phenotypes of the mother and the proband were consistent with the clinical characteristics of X-linked recessive HED,for which partial deletion of the EDA gene is probably accountable.
作者
梅道启
梅世月
陈国洪
王媛
王潇娜
张君
陈晓轶
李东晓
张耀东
Mei Daoqi;Mei Shiyue;Chen Guohong;Wang Yuan;Wang Xiaona;Zhang Jun;Chen Xiaoyi;Li Dongxiao;Zhang Yaodong(Department of Neurology,Children’s Hospital Affiliated to Zhengzhou University,Henan Provincial Children’s Hospital,Zhengzhou Children’s Hospital,Zhengzhou,Henan 450018,China;Henan Provincial Key Laboratory for Children’s Genetic and Metabolic Diseases,Henan Engineering Research Center of Childhood Neurodevelopment,Zhengzhou,Henan 450018,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2021年第3期219-223,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金(81701125,81901387)
河南省医学科技攻关计划(2018020633,2018020603,2018020616,LHGJ20200618)
河南省高等学校重点科研计划(18A310029)
河南省儿童神经发育工程研究中心课题(SG201907)。
