Objective: To identify potential mutations of ED1 gene in six pedigrees with hypohidrotic ectodermal dysplasia (HED), and to provide genetic counseling and prenatal diagnosis.
Methods: Eight coding exons of ED1 gene of patients with clinically diagnosed HED and their relatives were amplified by polymerase chain reaction (PCR). The products were further analyzed by direct sequencing.
Results: Various mutations of ED1 gene were detected, which included R153C, A349T, G299S, A349T and X392Q. Heterozygous double peaks at the same position were found in female carriers. Deletion of exon 9 was detected in one pedigree. R153C, X392Q and deletion of exon 9 were first identified in ethnic Han Chinese.
Conclusion: The identified mutations of ED1 gene may be responsible for the disease. Genetic counseling, prenatal diagnosis and carrier screening are now available for these families.