Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

Int J Pediatr Otorhinolaryngol. 2020 Jul:134:110038. doi: 10.1016/j.ijporl.2020.110038. Epub 2020 Apr 13.

Abstract

Solitary median maxillary central incisor syndrome (SMMCI) is a rare congenital oronasal-dental midline anomaly. The aim of this paper is a presentation of a patient with SMMCI without other visible dentofacial anomalies, with a potentially new molecular etiology consisting of a gene-gene reaction and conservative therapeutic approach to nasal obstruction. Potentially pathogenic variants in the SMO gene (p.Gly422Glu) and in P2RY13 gene (p.Trp205*) inherited from the probant's father, and in the PLD2 gene (p.Gln319fs), inherited from the mother were found. A multidisciplinary approach is necessary for the management of patients with SMMCI, including a genetic consultation with genetic tests.

Keywords: Genetic tests; Nasal obstruction; SHH; SMO; Solitary median maxillary central incisor syndrome.

Publication types

  • Case Reports

MeSH terms

  • Anodontia / diagnosis
  • Anodontia / genetics*
  • Choanal Atresia / diagnostic imaging
  • Choanal Atresia / genetics*
  • Choanal Atresia / surgery
  • Cisterna Magna / abnormalities
  • Cisterna Magna / diagnostic imaging
  • Hedgehog Proteins / genetics
  • Heterozygote
  • Humans
  • Imaging, Three-Dimensional
  • Incisor / abnormalities*
  • Infant, Newborn
  • Male
  • Palate, Hard / abnormalities
  • Phenotype
  • Phospholipase D / genetics*
  • Receptors, Purinergic P2 / genetics*
  • Signal Transduction
  • Smoothened Receptor / genetics*
  • Tomography, X-Ray Computed

Substances

  • Hedgehog Proteins
  • P2RY13 protein, human
  • Receptors, Purinergic P2
  • SHH protein, human
  • SMO protein, human
  • Smoothened Receptor
  • phospholipase D2
  • Phospholipase D

Supplementary concepts

  • Single upper central incisor