title: Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.
abstract: BACKGROUND
  POU1F1, a pituitary-specific transcription factor of the class 1 POU family, is crucial for the development and differentiation of the anterior pituitary gland. Mutations in the POU1F1 gene have been shown to be responsible for a syndrome of combined pituitary hormone deficiency (CPHD), including prolactin, growth hormone and thyroid-stimulating hormone deficiencies.
  
  
  METHODS
  Five patients with CPHD from three families were evaluated. The clinical and biochemical data were taken from the medical records. DNA was analyzed by polymerase chain reaction (PCR), denaturing gradient gel electrophoresis (DGGE), and sequencing.
  
  
  RESULTS
  Molecular analysis yielded three novel mutations in POU1F1: W193X, Q242R (-2 bp), and F262L.
  
  
  CONCLUSIONS
  Three novel POU1F1 mutations were detected in Israeli patients with CPHD. Two of them, a W193X missense mutation and a deletion of two adenine bases at position 242Q, may lead to the production of a truncated protein that lacks the entire POU homeodomain or part of it, respectively. The third mutation, F262L, resides in the POU homeodomain and hence might change the activity of the protein.
authors.affiliation: Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children 's Medical Center of Israel, Petah Tiqva, Israel.
authors.forename: G
authors.initials: G
authors.lastname: Gat-Yablonski
authors.forename: A
authors.initials: A
authors.lastname: Klar
authors.forename: D
authors.initials: D
authors.lastname: Hirsch
authors.forename: A
authors.initials: A
authors.lastname: Eliakim
authors.forename: L
authors.initials: L
authors.lastname: Lazar
authors.forename: H
authors.initials: H
authors.lastname: Hurvitz
authors.forename: M
authors.initials: M
authors.lastname: Phillip
mesh_terms: D001120:Arginine; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005973:Glutamine; D006801:Humans; D007557:Israel; D007930:Leucine; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010649:Phenylalanine; D010907:Pituitary Hormones / Q000172:deficiency*; D017434:Protein Structure, Tertiary / Q000235:genetics; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000235:genetics*; D014364:Tryptophan
chemical_list: D004268:DNA-Binding Proteins; C494187:POU1F1 protein, human; D010907:Pituitary Hormones; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D005973:Glutamine; D010649:Phenylalanine; D014364:Tryptophan; D001120:Arginine; D007930:Leucine