A novel mutation in PIT-1: Phenotypic variability in familial combined pituitary hormone deficiencies

G. Gat-Yablonski, L. Lazar, A. Pertzelan, M. Phillip

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in PIT-1 have been described in several cases of familial combined pituitary hormone deficiencies. This study describes a novel PIT-1 mutation that was found in two siblings of a highly consanguineous family of Israeli-Arab origin. The missense mutation (G688A) causes a lysine (K) to glutamic acid (E) substitution at codon 230. This codon resides in the first helix of the POU-homeodomain, which is directly involved in DNA binding. This amino acid is conserved in most homeodomain proteins, suggesting that the substitution disrupts the DNA-binding activity of the mutant protein. Two main observations are described: 1. The clinical presentation of the mutation involves intrauterine growth retardation. 2. One sibling had full deficiency of growth hormone and thyroid stimulating hormone, whereas the other had only growth hormone deficiency. This is, to the best of our knowledge, a unique expression of a novel PIT-1 mutation.

Original languageEnglish
Pages (from-to)325-330
Number of pages6
JournalJournal of Pediatric Endocrinology and Metabolism
Volume15
Issue number3
DOIs
StatePublished - 2002
Externally publishedYes

Keywords

  • Combined pituitary hormone deficiency
  • Denaturing gradient gel electrophoresis
  • Growth hormone
  • Multiple pituitary hormone deficiency
  • PIT-1
  • Prolactin
  • Thyroid stimulating hormone

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