Whole exome sequencing revealed a large deletion in EDA of a Vietnamese patient with Hypohidrotic Ectodermal Dysplasia.
Keywords:
EDA, hypohidrotic ectodermal dysplasia, mutation, Vietnam, whole exome sequencing.
Abstract
Hypohidrotic ectodermal dysplasia (HED) (OMIM # 305100) is a congenital genetic disorder caused by mutations in EDA (NM_001399) on chromosome X. Children with HED have the abnormal development of epidermal structures such as skin, hair, nails, teeth, and sweat glands. The present study aimed to detect mutations in EDA of a Vietnamese family with a son having only five teeth and no sweat glands, using whole exome sequencing (WES) and multiplex PCR. The results showed that patient had a deletion of exon 1 in EDA (c.2_396del), which is likely to be inherited from the healthy mother. The results will partly contribute to molecular studies on HED, helping in genetic counseling and disease treatment.
điểm /
đánh giá
Published
2021-12-28
Section
KHOA HỌC Y - DƯỢC