Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in chinese kindreds

Huali Fan, Xiaoqian Ye, Lisong Shi, Wei Yin, Bo Hua, Guangtai Song, Bin Shi, Zhuan Bian

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is a rare congenital disorder that results in the defective development of teeth, hair, nails, and eccrine sweat glands. Previous studies found that mutations in the ectodysplasin A (EDA) gene are associated with XLHED. In the present study, we investigated four Chinese families suffering from classical XLHED and investigated two additional families segregating hypodontia in an X-linked recessive manner. Mutations were characterized respectively in the EDA gene in all families, and five of these mutations were found to be novel. Among these mutations, five were missense (c.200A>T, c.463C>T, c.758T>C, c.926T>G, and c.491A>C) and located in the functional domain of EDA, and one was a splice donor site mutation in intron 5 (c.IVS5 + 1G>A), which may result in an alternative transcript derived from a new cryptic splice site. Our data further confirm that EDA mutations could cause both XLHED and isolated hypodontia and provide evidence that EDA is a strong candidate gene for tooth genesis.

Original languageEnglish
Pages (from-to)412-417
Number of pages6
JournalEuropean Journal of Oral Sciences
Volume116
Issue number5
DOIs
StatePublished - Oct 2008
Externally publishedYes

Keywords

  • EDA mutation
  • Hypodontia
  • Hypohidrotic ectodermal dysplasia
  • Sequencing
  • X-linked

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