title: A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.
abstract: OBJECTIVE
  In this study, the aim was to investigate a consanguineous Saudi family with non-syndromic premolars and third molars agenesis and to identify the causal mutation(s) using whole exome sequencing.
  
  
  METHODS
  Family phenotype and family pedigree were constructed from clinical and radiographic examinations. Whole exome sequencing was performed in two affected members of the Saudi family using the SureSelect Human all Exon 50 Mb kit (Agilent Technologies, Inc., Santa Clara, CA) and then sequenced on an Illumina HiSeq. SNP and indel calling were performed using samtools version 0.18 and were annotated using the software ANNOVAR.
  
  
  RESULTS
  The family pedigree showed that the inheritance was autosomal dominant. Whole exome sequencing revealed that the affected members in this family were heterozygous with a novel frameshift mutation in exon 2 of the MSX1 gene, (NM_002448:c.750_751insACCGGCTGCC, p.F251PfsX92).
  
  
  CONCLUSIONS
  The novel MSX1 frameshift mutation was linked to a family with moderate to severe tooth agenesis phenotype affecting second premolars and third molars in both arches. This expands the genotype-phenotype of MSX1 associated conditions.
authors: Centre for Oral Growth and Development, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Turner Street, London E1 2AD, UK.
authors: Shurog
authors: S
authors: AlFawaz
authors: University College London (UCL), UCL Genetics Institute, Darwin Building, Gower Street, London WC1E 6BT, UK.
authors: Vincent
authors: V
authors: Plagnol
authors: Centre for Oral Growth and Development, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Turner Street, London E1 2AD, UK. Electronic address: f.s.l.wong@qmul.ac.uk.
authors: Ferranti S L
authors: FS
authors: Wong
authors: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Newark Street, London E1 4AT, UK.
authors: David P
authors: DP
authors: Kelsell
mesh_terms: D001641:Bicuspid / Q000002:abnormalities*; D003241:Consanguinity; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D008964:Molar, Third / Q000002:abnormalities*; D010375:Pedigree; D010641:Phenotype; D012529:Saudi Arabia; D055815:Young Adult
chemical_list: D051957:MSX1 Transcription Factor
keywords: Autosomal dominant tooth agenesis; Exome sequence; Frameshift mutation; MSX1