A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

ABSTRACT:

Context

Combined pituitary hormone deficiency (CPHD) is characterized by deficiencies in more than one anterior pituitary hormone. Mutations in developmental factors responsible for pituitary cell specification and gene expression have been found in CPHD patients. OTX2, a bicoid class homeodomain protein, is necessary for both forebrain development and transactivation of the HESX1 promoter, but as of yet, has not been associated with CPHD.

Objective

The goal of this study was to identify and characterize novel mutations in pituitary specific transcription factors from CPHD patients.

Design

Genomic DNA was isolated from patients with hypopituitarism to amplify and sequence eight pituitary specific transcription factors (HESX1, LHX3, LHX4, OTX2, PITX2, POU1F1, PROP1, an

SUBMITTER: Diaczok D 

PROVIDER: S-EPMC2582563 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature