Clinical and genetic analysis of a child with X-linked hypohidrotic ectodermal dysplasia.
10.3760/cma.j.cn511374-20200117-00037
- VernacularTitle:一例无汗型外胚层发育不良患儿的临床及遗传学分析
- Author:
Fuhua DUAN
1
;
Yiwen ZHAI
;
Xiangdong KONG
Author Information
1. Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Child;
DNA Copy Number Variations;
Ectodermal Dysplasia/genetics*;
Ectodermal Dysplasia 1, Anhidrotic/genetics*;
Ectodysplasins/genetics*;
Genetic Testing;
Humans;
Infant;
Male;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(5):469-471
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of a child with X-linked hypohidrotic ectodermal dysplasia (XLHED).
METHODS:Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents with informed consent and subjected to copy number variation (CNV) analysis and whole exome sequencing (WES).
RESULTS:The male infant manifested sparse hair, anhidrosis, anuresis due to polycystic kidney dysplasia, external genital malformation and anal atresia. WES has revealed a 406 bp hemizygous deletion at Xq13 (68 836 147-68 836 553) in the proband, which encompassed exon 1 of the EDA gene. A heterozygous deletion at the same site was detected in the mother, while no deletion or duplication of the site was detected in the father.
CONCLUSION:The hemizygous deletion of EDA gene exon 1 probably underlay the ectodermal dysplasia in the proband. Above result has provided a basis for genetic counseling and prenatal diagnosis for the family.
