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| Xq13.1缺失致少汗性外胚层发育不良的表型及遗传学分析 | |
| 引用本文： | 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. Xq13.1缺失致少汗性外胚层发育不良的表型及遗传学分析[J]. 中华医学遗传学杂志, 2021, 0(3): 219-223 |
| 作者姓名： | 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 |
| 作者单位： | 郑州大学附属儿童医院;河南省遗传代谢性疾病重点实验室 |
| 基金项目： | 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)。 |
| 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 ... |
| 关 键 词： | EDA基因 染色体拷贝数变异 少汗性外胚层发育不良 |
Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion |
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| Mei Daoqi,Mei Shiyue,Chen Guohong,Wang Yuan,Wang Xiaona,Zhang Jun,Chen Xiaoyi,Li Dongxiao,Zhang Yaodong. Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion[J]. Chinese journal of medical genetics, 2021, 0(3): 219-223 | |
| Authors: | Mei Daoqi Mei Shiyue Chen Guohong Wang Yuan Wang Xiaona Zhang Jun Chen Xiaoyi Li Dongxiao Zhang Yaodong |
| Affiliation: | (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) |
| Abstract: | 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. |
| Keywords: | EDA gene Chromosome copy variation Hypohidrotic ectodermal dysplasia |
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