title: Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
abstract: BACKGROUND
  The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis.
  
  
  METHODS
  In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis.
  
  
  RESULTS
  Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for WNT10A mutations resulting in C107X, E222X and F228I.
  
  
  CONCLUSIONS
  We conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of bi-allelic WNT10A mutations of importance for diagnosis, counselling and follow-up.
authors.affiliation: National 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.|School of Health and Welfare, Jönköping University, Jönköping, Sweden. birgitta.bergendal@rjl.se.
authors.forename: Birgitta
authors.identifier: http://orcid.org/0000-0002-8009-8268
authors.initials: B
authors.lastname: Bergendal
authors.affiliation: National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, P.O. Box 1030, SE- 551 11, Jönköping, Sweden.|School of Health and Welfare, Jönköping University, Jönköping, Sweden.
authors.forename: Johanna
authors.initials: J
authors.lastname: Norderyd
authors.affiliation: Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.|Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: Xiaolei
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.|Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: Joakim
authors.initials: J
authors.lastname: Klar
authors.affiliation: Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.|Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000235:genetics; D002648:Child; D003744:Dental Enamel Hypoplasia / Q000235:genetics; D019229:Dentition, Permanent; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D014071:Tooth Abnormalities / Q000235:genetics*; D014094:Tooth, Deciduous / Q000002:abnormalities; D051153:Wnt Proteins / Q000172:deficiency / Q000235:genetics*
chemical_list: C484142:WNT10A protein, human; D051153:Wnt Proteins
keywords: Dental; Ectodermal dysplasia; Permanent dentition; Primary dentition; WNT10A mutations