A novel nonsense mutation in the Pit-1 gene

Evidence for a gene dosage effect

Yukiko Hashimoto, Mariangela Cisternino, Laurie E. Cohen

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

The POU transcription factor Pit-1 functions in the development of somatotrophs, lactotrophs, and thyrotrophs of the anterior pituitary gland. It also plays a role in cell-specific gene expression and regulation of the gene products from these cell types, GH, prolactin, and TSH, respectively. In the present report we studied a patient with severe growth failure. Provocative studies revealed undetectable GH, prolactin, and TSH levels, and her pituitary gland was hypoplastic on magnetic resonance imaging. She had a novel homozygous nonsense mutation in the 3′ end of the first α-helix of the POU-specific domain of the Pit-1 gene. This mutation results in a truncated protein with loss of most of the Pit-1 DNA-binding domains. Interestingly, her parents, who each have one mutant allele, have evidence of mild endocrine dysfunction. Thus, two normal copies of the Pit-1 gene appear necessary for full Pit-1 gene function.

Original languageEnglish
Pages (from-to)1241-1247
Number of pages7
JournalJournal of Clinical Endocrinology and Metabolism
Volume88
Issue number3
DOIs
Publication statusPublished - Mar 1 2003

Fingerprint

Gene Dosage
Nonsense Codon
Genes
Gene expression
Prolactin
Transcription Factor Pit-1
Thyrotrophs
Lactotrophs
Somatotrophs
Anterior Pituitary Gland
Gene Expression Regulation
Pituitary Gland
Magnetic resonance
Parents
Alleles
Magnetic Resonance Imaging
Imaging techniques
Mutation
DNA
Growth

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

A novel nonsense mutation in the Pit-1 gene : Evidence for a gene dosage effect. / Hashimoto, Yukiko; Cisternino, Mariangela; Cohen, Laurie E.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 88, No. 3, 01.03.2003, p. 1241-1247.

Research output: Contribution to journalArticle

Hashimoto, Yukiko ; Cisternino, Mariangela ; Cohen, Laurie E. / A novel nonsense mutation in the Pit-1 gene : Evidence for a gene dosage effect. In: Journal of Clinical Endocrinology and Metabolism. 2003 ; Vol. 88, No. 3. pp. 1241-1247.
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