ArticleThe Journal of clinical endocrinology and metabolism2009
A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.
Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 32 citations in OpenAlex.
- Analysis of Genetic Factors in a Family With Short Stature.Molecular genetics & genomic medicine · 2026Article
- Pathogenetic therapeutic approaches for endocrine diseases based on antisense oligonucleotides and RNA-interference.Frontiers in endocrinology · 2025Review
- The clinical and genetic aspects of six individuals withFrontiers in endocrinology · 2024Article
- Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.Hormone research in paediatrics · 2024Article
- Advances in differential diagnosis and management of growth hormone deficiency in children.Nature reviews. Endocrinology · 2021Review
- p.R209H GH1 variant challenges short stature assessment.Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society · 2020Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).Indian journal of pediatrics · 2012Review
- Pharmacologic correction of dominant-negative GH1 deficiency causing mutations.Clinical and translational science · 2011Article
- Genetic causes and treatment of isolated growth hormone deficiency-an update.Nature reviews. Endocrinology · 2010Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
contextDominant-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.
objectiveWe 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. Ratios of their 17.5-kDa (mutant)/22-kDa (normal) GH1 transcripts were determined in cultured lymphocytes (CLs), and these ratios were correlated with height sd scores obtained before GH replacement therapy.
resultsRatios of 17.5-/22-kDa GH1 transcripts in CLs from family members with the same IGHD II mutation correlated with differences in their height SD scores.
conclusionsOur findings suggest that expression levels of both the mutant and normal GH1 allele are important in the pathogenesis of IGHD II, that the ratio of mutant/normal transcripts may be a predictive marker of the penetrance and severity of IGHD II, and that CLs may be useful as surrogates to study GH1 transcript expression of subjects whose anterior pituitary cells are not available.
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