Tooth Agenesis, Selective, 3

Alternative Names

  • STHAG3
  • Hypodontia/Oligodontia 3

Associated Genes

Paired Box Gene 9
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WHO-ICD-10 version:2010

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

OMIM Number

604625

Mode of Inheritance

Autosomal dominant

Gene Map Locus

14q13.3

Description

Tooth agenesis is a rare developmental dental anomaly in humans.  It is characterized by the absence of six or more teeth, lack of development of maxillary and mandibular alveolar bone height, problems in tooth eruption and exfoliation.  There is considerable variation in the morphology of teeth between patients.  Based on the number of missing teeth, tooth agenesis is classified as hypodontia (one to five missing teeth), oligodontia (six or more missing teeth) and anodontia (complete lack of tooth development). 

Incidence of syndromic and non-syndromic oligodontia in Europe varies from 1/625 to 1/1,250.  Diagnoses can be established through clinical examination and intra-oral x-ray.  Treatment is provided through multidisciplinary team.

Molecular Genetics

Tooth Agenesis, Selective, 3 (STHAG3) is transmitted in an autosomal dominant manner, and is caused by mutations in the PAX9 gene.  This gene codes for a transcription factor that plays a major role in tooth development. 

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Shahid et al., (2016) enrolled 21 Saudi Arabian families having 41 patients with non-syndromic forms of tooth agenesis.  In addition, 100 healthy matched controls were also recruited into this study.  These patients were referred to the dental clinic for dental treatment.  Two of the participants fulfilled the definition of oligodontia and the mean number of missing permanent teeth was 7.  Diagnosis of tooth agenesis was confirmed by clinical and radiographic examination.  Sanger sequencing enabled the identification of a novel (g.10672A > T; p.Asn16Ile) mutation in exon 3 of PAX9 gene.  This mutation was seen in two patients with negative family history of teeth agenesis.

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