Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing.
10.3760/cma.j.cn511374-20190726-00376
- Author:
Junke XIA
1
;
Panlai SHI
;
Chen CHEN
;
Qian TANG
;
Xiangdong KONG
Author Information
1. Prenatal and Genetic Diagnosis Center, the Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450002, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
DNA Copy Number Variations;
Ectodermal Dysplasia/genetics*;
Ectodysplasins/genetics*;
Exons;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Mosaicism;
Sequence Deletion;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2020;37(11):1265-1268
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic cause of a patient suspected for congenital ectodermal dysplasia with repeated hyperthermia and to assess the reproductive risk for his family.
METHODS:Medical whole-exome sequencing (WES) were used to detect single-nucleotide variations and low-coverage massively parallel copy number variation sequencing (CNV-seq) were employed to verify suspected CNVs. PCR and real-time quantitative PCR were applied to confirm the deletion of EDA gene.
RESULTS:The results of WES suggested that the patient carried a hemizygous deletion for chrX:69 243 016-69 395 730. CNV-seq indicated that the patient carried a deletion of approximately 0.12 Mb on Xq13.1, which encompassed the EDA gene. The PCR results confirmed that there was a hemizygous deletion of exons 3 to 8 of the EDA gene. The same deletion was not found in his mother.
CONCLUSION:The congenital ectodermal dysplasia of the patient may be attributed to deletion of exons 3 to 8 of the EDA gene, which could be de novo or derive from germline mosaicism of his mother. The WES and CNV-seq are of great value for the diagnosis of rare diseases.
