Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a

BMC Med Genet. 2018 Dec 7;19(1):209. doi: 10.1186/s12881-018-0726-2.


Background: Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c.878 T > G, c.663-697del and c.587-615del) were detected from the pedigrees of HED.

Methods: Conservation analysis of the related homologous proteins in 3 unknown EDA gene mutation sites was conducted using the University of California Santa Cruz (UCSC) Genome Browser database. SIFT and PolyPhen-2, the online gene function prediction software, were utilized to predict the pathogenicity of point mutation of c.878 T > G.

Results: All three unknown mutation sites were located in the highly-conserved region of EDA and possessed strong amino acid conservation among different species. In addition, the results of the pathogenicity prediction of point mutation of c.878 T > G by SIFT (P = 0.00) and PolyPhen-2 (S = 0.997) demonstrated that the mutation site had considerable pathogenicity theoretically.

Conclusions: The EDA mutations of c.878 T > G, c.663-697del and c.587-615del may be responsible for the pathogenesis of HED in their pedigrees.

Keywords: Conservation; Ectodysplasin a gene; Gene mutation; Hypohidrotic ectodermal dysplasia; Pathogenicity; Related homologous proteins.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Child
  • Computational Biology / methods
  • Conserved Sequence
  • Databases, Genetic
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / diagnosis
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / genetics*
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / pathology*
  • Ectodysplasins / genetics*
  • Gene Expression
  • Humans
  • Male
  • Mutation*
  • Pedigree


  • EDA protein, human
  • Ectodysplasins