title: Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
abstract: OBJECTIVE
  Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.
  
  
  METHODS
  Exome sequencing was performed in two of affected members of the Pakistan family.
  
  
  RESULTS
  The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T>A (p.C227X).
  
  
  CONCLUSIONS
  This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development.
authors: Centre for Oral Growth & Development, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Turner Street, London E1 2AD, UK.
authors: S
authors: S
authors: Alfawaz
authors: F
authors: F
authors: Fong
authors: V
authors: V
authors: Plagnol
authors: F S L
authors: FS
authors: Wong
authors: J
authors: J
authors: Fearne
authors: D P
authors: DP
authors: Kelsell
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000235:genetics*; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008131:London; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009805:Odontogenesis / Q000235:genetics; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree
chemical_list: D002135:Calcium-Binding Proteins; C476827:SMOC2 protein, human