title: A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family.
abstract: OBJECTIVE
  Tooth agenesis is the most common dental anomaly, whose aetiology still remains to be fully elucidated. The aim of this study was to investigate the genetic cause of non-syndromic hypodontia with clinical variability in an Egyptian family.
  
  
  METHODS
  The entire coding regions including exon-intron boundaries of the MSX1, PAX9 and WNT10A genes were investigated by direct sequencing in all affected family members.
  
  
  RESULTS
  Novel heterozygous mutation inherited in an autosomal dominant manner was identified in the WNT10A gene. This 21-bp deletion combined with 1-bp insertion, c.-14_7delinsC, eliminates the translation initiation codon leading to either no protein production or translation of alternative open reading frames. None of the control subjects (400 chromosomes) were carriers of this novel WNT10A mutation. No pathogenic mutations were found in the MSX1 and PAX9 genes.
  
  
  CONCLUSIONS
  The novel c.-14_7delinsC mutation might be the etiological variant of the WNT10A gene responsible for the permanent tooth agenesis in the Egyptian family. WNT10A is a major candidate gene for non-syndromic hypodontia.
authors.affiliation: Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
authors.forename: Ebtesam M
authors.initials: EM
authors.lastname: Abdalla
authors.affiliation: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland. Electronic address: amostowska@wp.pl.
authors.forename: Adrianna
authors.initials: A
authors.lastname: Mostowska
authors.affiliation: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Paweł P
authors.initials: PP
authors.lastname: Jagodziński
authors.affiliation: Department of Paediatric Dentistry, Faculty of Dentistry, Alexandria University, Alexandria, Egypt.
authors.forename: Karin
authors.initials: K
authors.lastname: Dwidar
authors.affiliation: Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
authors.forename: Suzan R
authors.initials: SR
authors.lastname: Ismail
mesh_terms: D000328:Adult; D000848:Anodontia / Q000235:genetics*; D002508:Cephalometry; D002648:Child; D004534:Egypt; D005260:Female; D006579:Heterozygote; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D051764:PAX9 Transcription Factor / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human; D051764:PAX9 Transcription Factor; C484142:WNT10A protein, human; D051153:Wnt Proteins
keywords: Non-sydromic hypodontia; WNT10A mutation