X-linked hypohidrotic ectodermal dysplasia: New features and a novel EDA gene mutation

Salvatore Savasta, Giorgia Carlone, Riccardo Castagnoli, Francesca Chiappe, Francesco Bassanese, Roberta Piras, Vincenzo Salpietro, Valeria Brazzelli, Alberto Verrotti, Gian L. Marseglia

Research output: Contribution to journalArticlepeer-review


We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

Original languageEnglish
Pages (from-to)111-116
Number of pages6
JournalCytogenetic and Genome Research
Issue number3
Publication statusPublished - Oct 1 2017


  • EDA
  • Facial dysmorphism
  • Hypodontia
  • Hypohidrotic ectodermal dysplasia

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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