Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

ABSTRACT:

Context

The LHX4 LIM-homeodomain transcription factor has essential roles in pituitary gland and nervous system development. Heterozygous mutations in LHX4 are associated with combined pituitary hormone deficiency.

Objectives

Our objectives were to determine the nature and frequency of LHX4 mutations in patients with pituitary hormone deficiency and to examine the functional outcomes of observed mutations.

Design

The LHX4 gene sequence was determined from patient DNA. The biochemical and gene regulatory properties of aberrant LHX4 proteins were characterized using structural predictions, pituitary gene transcription assays, and DNA binding experiments.

Patients

A total of 253 patients from 245 pedigrees with GH deficiency and deficiency of at least one addition

SUBMITTER: Pfaeffle RW 

PROVIDER: S-EPMC2266965 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature