Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing

Clin Dysmorphol. 2021 Apr 1;30(2):93-99. doi: 10.1097/MCD.0000000000000363.

Abstract

Gingival fibromatosis with distinctive facies presents a rare clinical picture. It is characterized by gingival fibromatosis in conjunction with some craniofacial dysmorphic features such as relative macrocephaly, bushy eyebrows, synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge, hypoplastic nares, cupid-bow mouth and a high palate. Autosomal recessive inheritance has been suggested. However, to date, no causative gene has been reported. Herein, we report a case presenting with the typical findings of this rare genetic syndrome. A homozygous c.1855C>T (p.Gln619Ter) mutation in the PTPN14 gene was identified.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Exome Sequencing
  • Facies*
  • Fibromatosis, Gingival / diagnosis*
  • Fibromatosis, Gingival / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Mutation / genetics*
  • Phenotype*
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*
  • Sequence Analysis, DNA

Substances

  • PTPN14 protein, human
  • Protein Tyrosine Phosphatases, Non-Receptor