A case of Neonatal generalized atrophic benign epidermolysis bullosa due to variants of COL17A1 gene
10.3760/cma.j.cn511374-20220207-00092
- VernacularTitle:COL17A1基因变异致新生儿良性泛发性萎缩性大疱性表皮松解症1例
- Author:
Suyue ZHU
1
;
Jibing QIAO
;
Nan SHEN
;
Yongying ZHOU
;
Man CEN
;
Yazhou JIANG
Author Information
1. 徐州医科大学附属宿迁医院·南京鼓楼医院集团宿迁医院儿科，宿迁 223800
- Keywords:
COL17A1 gene;
Compound heterozygous variants;
Generalized atrophic benign epidermolysis bullosa
- From:
Chinese Journal of Medical Genetics
2024;41(6):741-744
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To diagnose and explore the genetic etiology of a neonate with Hereditary epidermolysis bullosa.Methods:A neonate who was admitted to Suqian Hospital Affiliated to Xuzhou Medical University on July 10, 2021 was selected as the study subject. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA. And target gene capture and next-generation sequencing were carried out. Candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:The child was found to harbor compound heterozygous variants of the COL17A1 gene, namely c. 997C>T (p.Q333X) and c. 3481dupT (p.Y1161fs*2), which were respectively inherited from his father and mother. Both variants were predicted to be pathogenic. Conclusion:The child was diagnosed with Generalized atrophic benign epidermolysis bullosa due to the compound heterozygous variants of the COL17A1 gene.
