Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.

BACKGROUND: As the most common form of ectodermal dysplasia (ED), X-linked hypohidrotic ED (XLHED) is characterized by the triad of hypohidrosis, hypotrichosis, and anodontia in male patients. The gene responsible for XLHED is EDA. To date, more than 300 mutations have been identified in this gene, including point mutations, deletions, and insertions. Most of the mutations result in XLHED, while the rest cause X-linked dominant incisor hypodontia.

OBJECTIVE: Mutation screening was performed in seven Chinese families with XLHED.

RESULTS: Mutations were identified in all seven families, including four previously reported missense mutations (p.M1T, p.R156C, p.G299S, and p.A349T) and three novel mutations; missense mutation (p.Q358 L), indel (P228Tfs*52), as well as a large deletion.

CONCLUSION: Our results extend the mutational spectrum of EDA and can be helpful with genetic counseling and prenatal diagnosis for these families.