A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.

ABSTRACT:

Context

Dominant-negative GH1 mutations cause familial isolated growth hormone deficiency type II (IGHD II), which is characterized by GH deficiency, occasional multiple anterior pituitary hormone deficiencies, and anterior pituitary hypoplasia. The basis of the variable expression and progression of IGHD II among relatives who share the same GH1 mutation is poorly understood.

Objective

We hypothesized that the cellular ratios of mutant/normal GH1 transcripts would correlate with the severity of the IGHD II phenotype. We determined the relative amounts of mutant and normal GH1 transcripts in cell lines and correlated transcript ratios with severity.

Design and patients

Members of the same IGHD II kindred were genotyped for the GH1 E3+1 G/A mutation by DNA sequencing.

SUBMITTER: Hamid R 

PROVIDER: S-EPMC2795644 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature