Detection of an EDA mutation causing hypohidrotic ectodermal dysplasia in a Vietnamese patient

Vu Thi Hong Nhung, La Duc Duy, Le Thi Thanh Huong, Nguyen Thuy Duong
Author affiliations

Authors

  • Vu Thi Hong Nhung Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Road, Cau Giay District, Hanoi, Vietnam https://orcid.org/0009-0003-8590-7591
  • La Duc Duy Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Road, Cau Giay District, Hanoi, Vietnam
  • Le Thi Thanh Huong Phuong Dong General Hospital, 9 Pho Vien Street, Bac Tu Liem District, Hanoi, Vietnam
  • Nguyen Thuy Duong Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Road, Cau Giay District, Hanoi, Vietnam

DOI:

https://doi.org/10.15625/1811-4989/19383

Abstract

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by abnormal development of the structures derived from the ectoderm layer, including hair, teeth, nails, and sweat glands. The most observed form of HED, which is known as X-linked hypohidrotic ectodermal dysplasia (XLHED), is commonly attributed to genetic abnormalities in the ectodysplasin A (EDA) gene. We have successfully discovered a known mutation c.1045G>A (p.A349T) in a Vietnamese proband who displayed the main symptoms of XLHED using PCR and Sanger sequencing. Furthermore, the segregation of the mutation showed that the mother, who exhibited a normal phenotype, was a carrier of the mutation, while the father was hemizygous for the wild-type allele. The identification of the mutation c.1045G>A (p.A349T) contributes to HED research worldwide and can be used for genetic counseling in Vietnam.

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Published

30-09-2023

How to Cite

Hong Nhung, V. T., Duc Duy, L., Thanh Huong, L. T., & Thuy Duong, N. (2023). Detection of an EDA mutation causing hypohidrotic ectodermal dysplasia in a Vietnamese patient. Vietnam Journal of Biotechnology, 21(3), 407–414. https://doi.org/10.15625/1811-4989/19383

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