title: Identification of two novel mutations in TRPS1 gene in families with tricho-rhino-phalangeal type I syndrome.
abstract: BACKGROUND
  Autosomal dominant tricho-rhino-phalangeal syndrome I (TRPS I) is due to mutations in the TRPS1 gene. Tricho-rhino-phalangeal syndrome I is characterized by peculiar face and skeletal anomalies. Cone-shaped epiphyses are the characteristic radiographic findings.
  
  
  OBJECTIVE
  To describe 2 families with TRPS I and 2 novel mutations in the TRPS1 gene.
  
  
  METHODS
  The study included 2 nonrelated families with TRPS I. All exons of the TRPS1 gene were analyzed from genomic DNA.
  
  
  RESULTS
  The TRPS1 gene mutation analysis showed in family 1 the c.978C>A nonsense mutation within exon 4 and in family 2 the c.164A>C missense mutation within exon 3.
  
  
  CONCLUSIONS
  We found 2 families with TRPS1 caused by 2 novel mutations in the TRPS gene, particularly a missense mutation in exon 3, outside the GATA zinc finger domain, that leads a mild TRPS phenotype. Our data show a higher genotypic spectrum in the TRPS I and demonstrate that mutations in the amino terminus of the transcription factor result in TRPS I syndrome.
authors.affiliation: Servicio de Genética, Hospital Infantil de México Federico Gómez, Mexico City, Mexico.
authors.forename: Arturo
authors.initials: A
authors.lastname: Flores-Cuevas
authors.forename: Oswaldo
authors.initials: O
authors.lastname: Mutchinick
authors.forename: Jose J
authors.initials: JJ
authors.lastname: Morales-Suárez
authors.forename: Luz Maria
authors.initials: LM
authors.lastname: González-Huerta
authors.forename: Sergio A
authors.initials: SA
authors.lastname: Cuevas-Covarrubias
mesh_terms: D000293:Adolescent; D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009666:Nose / Q000002:abnormalities; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors