Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

• Published in: Application of clinical genetics Vol. 14; pp. 467 - 472
• Main Authors: Trieutien, Sang, Vu Van, Tam, Tran Ngoc Thao, My, Trinh The, Son, Tran Van, Khoa, Nguyen Thanh, Tung, Tran Van, Tuan, Nguyen Thi, Hanh
• Format: Journal Article
• Language: English
• Published: New Zealand Taylor & Francis Ltd 01-01-2021; Dovepress; Dove; Dove Medical Press
• Subjects: Alleles; Chromosome aberrations; Chromosomes; col7a1 gene mutation; Diagnosis; Dystrophic epidermolysis bullosa; Embryos; Epidermolysis bullosa; Genetic counseling; Genetic disorders; Genetic screening; Genetics; Genomes; Health risk assessment; Human genetics; Human health and pathology; In vitro fertilization; Junctional epidermolysis bullosa; Life Sciences; Mutation; Original Research; pgd; Polymerase chain reaction; Pregnancy; preimplantation genetic diagnosis; rare dystrophic epidermolysis bullosa; rdeb; skin disorder; Trauma; Uterus; Vietnam; epidermolysis bullosa; RDEB; COL7A1 gene mutation; preimplantation genetic diagnosis; rare dystrophic epidermolysis bullosa; skin disorder; PGD; EB
• ISSN: 1178-704X; 1178-704X
• DOI: 10.2147/TACG.S344107

Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to severe, classified into four major types: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB) and Kindler syndrome. Preimplantation genetic diagnosis for the disease remains the only available option for families at risk for the recurrence of the disorder without having to terminate an ongoing pregnancy.
A novel
mutation was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation in the family and their in-vitro fertilization (IVF) embryos. Then, the PCR products were sequenced with Sanger sequencing to detect the alteration in the allele, and some embryos would go through NGS-based preimplantation screening for chromosomal abnormalities.
The established protocol for EB detected mutant allele in 6/9 embryos (66.6%), while the remaining 3 embryos (33.4%) appeared to not carry any mutation. Only one among 3 embryos was recommended to be transferred into the mother's uterus.
The established preimplantation genetic diagnosis procedure is helpful to families affected by epidermolysis bullosa caused by
mutations but wish to have healthy children.