Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster
- 1 November 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (3), 443-452
- https://doi.org/10.1002/ajmg.1320250306
Abstract
We report on two sibs with familial isolated growth hormone deficiency (IGHD) resulting from homozygosity for a 7.6 kb deletion within the growth hormone gene cluster. The deletion not only affects the structural gene for growth hormone (GH‐N) but also alters sequences adjacent to the chorionic somatomammotropin‐like (CS‐L) gene. In contrast to previously reported cases with IGHD type IA, our two patients responded well to growth hormone substitution and formation of blocking antibodies did not occur.Keywords
This publication has 19 references indexed in Scilit:
- The natural history of familial hypopituitarismAmerican Journal of Medical Genetics, 1985
- 11 Diagnosis of human endocrine disorders using recombinant DNA techniquesClinics in Endocrinology and Metabolism, 1985
- Isolated growth hormone deficiency type 1A ina Japanese familyThe Journal of Pediatrics, 1984
- Final Height of Patients with Pituitary Growth Failure and Changes in Growth Variables after Long Term Hormonal TherapyPediatric Research, 1983
- Genetic analysis of familial isolated growth hormone deficiency type I.JCI Insight, 1982
- The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21→qterHuman Genetics, 1981
- Human Growth Hormone: Complementary DNA Cloning and Expression in BacteriaScience, 1979
- A physical map of the DNA regions flanking the rabbit β-globin geneCell, 1977
- Amplification and characterization of a β-globin gene synthesized in vitroCell, 1976
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975