Endocrine Journal
Online ISSN : 1348-4540
Print ISSN : 0918-8959
A Novel E250X Mutation of the PIT1 Gene in a Patient with Combined Pituitary Hormone Deficiency
YOSHIFUMI IRIEKE-ITA TATSUMIMASAMICHI OGAWATAKASHI KAMIJOCHAWALIT PREEYASOMBATCHITTIWAT SUPRASONGSINNOBUYUKI AMINO
Author information
JOURNALS FREE ACCESS

Volume 42 (1995) Issue 3 Pages 351-354

Details
Download PDF (525K) Contact us
Abstract

PIT1 abnormality is defined as a genetic abnormality in the PIT1 gene that encodes a pituitary specific transcription factor, Pit-1/GHF-1. PIT1 abnormality indicates combined deficiency of thyrotropin (TSH), growth hormone (GH) and prolactin (PRL), and has been reported in several cases. We studied the PIT1 gene in a patient with combined deficiency of TSH, GH and PRL. A novel mutation substituting a termination codon for Glutamate at 250th codon (E250X) was identified in the homozygous state in the patient. Both of the healthy parents harbored this mutation in the heterozygous state. This nonsense mutation results in complete loss of helix 3 of the POU homeodomain of Pit-1/GHF-1. As helix 3 of the homeodomain is involved directly in DNA binding, the mutant Pit-1/GHF-1 may lose the DNA binding activity of the POU homeodomain and lose its transcriptional activation. The E250X mutation is therefore considered to be the cause of the combined deficiency of TSH, GH and PRL in this patient.

Information related to the author
© The Japan Endocrine Society
Previous article Next article

Recently visited articles
feedback
Top