Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene

Celia R. Nogueira, Leah Sabacan, J. Larry Jameson, Geraldo Medeiros-Neto, Peter Kopp*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

Mutations in the pituitary-specific paired-like homeodomain transcription factor PROP-1 result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary hormones with the exception of ACTH. In an inbred pedigree with CPHD, direct sequencing of the PROP-1 gene revealed a deletion of two base pairs (301-302delAG) in exon 2, resulting in a frameshift and a premature stop in codon 109 in the homeodomain. The clinical characteristics of this family support the notion that this truncation results in a more severe phenotype than missense mutations in the aminoterminal part of the homeodomain.

Original languageEnglish (US)
Pages (from-to)58-61
Number of pages4
JournalMolecular Genetics and Metabolism
Volume67
Issue number1
DOIs
StatePublished - May 1999

Keywords

  • Growth failure
  • Hormone deficiency
  • Hypopituitarism
  • Mutation
  • PROP-1
  • Pituitary

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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