Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion.
10.3760/cma.j.cn511374-20200515-00347
- Author:
Daoqi MEI
1
;
Shiyue MEI
;
Guohong CHEN
;
Yuan WANG
;
Xiaona WANG
;
Jun ZHANG
;
Xiaoyi CHEN
;
Dongxiao LI
;
Yaodong ZHANG
Author Information
1. Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China. xiaomay2008@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
DNA Copy Number Variations;
Ectodermal Dysplasia;
Ectodermal Dysplasia 1, Anhidrotic/genetics*;
Ectodysplasins/genetics*;
Humans;
Male;
Phenotype
- From:
Chinese Journal of Medical Genetics
2021;38(3):219-223
- CountryChina
- Language:Chinese
-
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: 68 796 566-69 138 468). 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, and sparse, decidulated and nail-like teeth. The mother was detected with a heterozygous 242.10 kb deletion at Xq13.1q13.1 (chrX: 68 836 154-69 078 250).
CONCLUSION:Both the proband and his mother have 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.
