title: A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.
abstract: BACKGROUND
  Oral-facial-digital syndrome (OFDS) type 1 (OFD1) is an X-linked dominant condition associated with embryonic male lethality. It almost always affects the oral cavity, face, and digits. It is considered to be a ciliopathy caused by mutations in the OFD1 gene. A variety of mutations have been described, and a genotype-phenotype correlation has been suggested.
  
  
  OBJECTIVE
  The proband was an 8-year-old Spanish girl with suspected OFD1. We extended the pedigree to three proband's generations, performing a thorough physical examination and screening for OFD1 mutations in nine individuals.
  
  
  RESULTS
  The proband, her mother, and her sister showed oral findings consistent with OFD1. Ultrasound evaluation revealed the existence of renal cysts only in the proband's mother. The rest of the family (all male) had no relevant morphological abnormalities. A single-base deletion in exon 16 of OFD1 (c.2183delG) leading to a frameshift was detected in the proband, her mother, and her sister.
  
  
  CONCLUSIONS
  Because all three women had a similar oral phenotype, this new mutation might be involved in the development of the OFD1 oral manifestations. In cases of OFDS, physical examination (including the oral cavity and renal function) and genetic screening of the probands and their relatives are mandatory.
authors: Special Needs Unit, School of Medicine and Dentistry, Santiago de Compostela University, C/Entrerrios sn. 15782 Santiago de Compostela (A Coruña), Spain. pedro.diz@usc.es
authors: P
authors: P
authors: Diz
authors: V
authors: V
authors: Alvarez-Iglesias
authors: J F
authors: JF
authors: Feijoo
authors: J
authors: J
authors: Limeres
authors: J
authors: J
authors: Seoane
authors: I
authors: I
authors: Tomás
authors: A
authors: A
authors: Carracedo
mesh_terms: D000328:Adult; D001483:Base Sequence / Q000235:genetics; D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006147:Guanine; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics*; D009958:Orofaciodigital Syndromes / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics*; D055815:Young Adult
chemical_list: C115130:OFD1 protein, human; D011506:Proteins; D006147:Guanine