Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency

G. Gat-Yablonski, A. Klar, D. Hirsch, A. Eliakim, L. Lazar, H. Hurvitz, M. Phillip*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)385-393
Number of pages9
JournalJournal of Pediatric Endocrinology and Metabolism
Volume18
Issue number4
DOIs
StatePublished - Apr 2005

Keywords

  • Combined pituitary hormone deficiency
  • DGGE
  • Growth hormone
  • Multiple pituitary hormone deficiency
  • POU1F1
  • Prolactin
  • Thyroid stimulating hormone

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