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Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

Birgitta Bergendal1,2, Johanna Norderyd3,4, Xiaolei Zhou5,6

  • 1National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, P.O. Box 1030, SE- 551 11, Jönköping, Sweden. birgitta.bergendal@rjl.se.

BMC Medical Genetics
|November 25, 2016
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Summary

Genetic analysis revealed WNT10A mutations in seven patients with severe tooth agenesis and ectodermal symptoms. Anomalies in primary dentition, like peg-shaped incisors, and severe permanent tooth loss can predict these mutations.

Keywords:
DentalEctodermal dysplasiaPermanent dentitionPrimary dentitionWNT10A mutations

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Area of Science:

  • Genetics
  • Developmental Biology
  • Oral Health

Background:

  • WNT10A protein is essential for ectodermal appendage development.
  • WNT10A gene variants are linked to ectodermal abnormalities, including tooth agenesis.

Purpose of the Study:

  • To investigate WNT10A mutations in patients with severe tooth agenesis and ectodermal symptoms.
  • To identify clinical predictors of WNT10A mutations.

Main Methods:

  • Genetic analysis of WNT10A in seven patients.
  • Clinical examination of primary and permanent dentition.
  • Assessment of additional ectodermal symptoms.

Main Results:

  • All seven patients had WNT10A mutations (homozygous or compound heterozygous).
  • Observed anomalies included peg-shaped primary incisors, primary tooth agenesis, severe permanent tooth oligodontia (mean 21 missing teeth), and taurodontism.
  • Associated ectodermal symptoms included hair anomalies (all patients), hyperhidrosis (6/7), and nail anomalies (2/7).

Conclusions:

  • Tooth agenesis and primary incisor anomalies may predict WNT10A mutations.
  • Severe oligodontia and ectodermal symptoms are indicators for WNT10A mutations.
  • Identifying WNT10A mutations is crucial for diagnosis, genetic counseling, and patient follow-up.