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Related Experiment Videos

TFAP2B mutation and dental anomalies.

Natchaya Tanasubsinn1,2, Rekwan Sittiwangkul3, Yupada Pongprot3

  • 1Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.

Journal of Human Genetics
|April 7, 2017
PubMed
Summary

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TFAP2B gene mutations are linked to tooth agenesis and other dental anomalies. While TFAP2B mutations are a common cause of patent ductus arteriosus (PDA) in Caucasians, they are not common in the Thai population.

Area of Science:

  • Genetics
  • Developmental Biology
  • Human Physiology

Background:

  • Mutations in the TFAP2B gene have been previously associated with isolated patent ductus arteriosus (PDA) and Char syndrome.
  • This study investigates the role of TFAP2B mutations in isolated tooth agenesis and PDA.
  • Analysis was conducted on patients with isolated PDA, PDA with other congenital heart defects, and isolated tooth agenesis.

Observation:

  • A heterozygous c.1006G>A mutation in TFAP2B was identified in 20 individuals.
  • Mutation carriers included patients with isolated tooth agenesis, PDA with other defects, and normal controls.
  • The mutation is predicted to result in a p.Val336Ile amino-acid substitution in the TFAP2B protein.

Findings:

  • TFAP2B mutations are associated with tooth agenesis, microdontia, supernumerary teeth, and root maldevelopment.

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  • The incidence of TFAP2B mutations in isolated tooth agenesis was 5.6%.
  • TFAP2B mutations are not a common cause of PDA in the Thai population, unlike in Caucasians.

    • Implications:

    • This research establishes a novel link between TFAP2B mutations and various dental anomalies.
    • Expression patterns of Tfap2b in mouse embryos support its role in tooth development.
    • The findings suggest a potential founder effect for this mutation in certain populations and highlight ethnic variations in the genetic causes of PDA.