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Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.
Open accessAbstract
Laron-type dwarfism is an autosomal recessive genetic disorder that is characterized by high levels of growth hormone and low levels of insulin-like growth factor I in the circulation. Several lines of evidence suggest that this disease is caused by a defect in the growth hormone receptor. In order to analyze the receptor gene in patients with Laron-type dwarfism and with other growth disorders, we have first determined the gene structure in normal individuals. There are nine exons that encode the receptor and several additional exons in the 5' untranslated region. The coding exons span at least 87 kilobase pairs of chromosome 5. Characterization of the growth hormone receptor gene from nine patients with Laron-type dwarfism shows that two individuals have a deletion of a large portion of the extracellular, hormone binding domain of the receptor gene. Interestingly, this deletion includes nonconsecutive exons, suggesting that an unusual rearrangement may have occurred. Thus, we provide direct evidence that Laron-type dwarfism can result from a defect in the structural gene for the growth hormone receptor.
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Citations
Cited by
Genetic conflicts in human pregnancy
Haig, D. (1993) · The Quarterly Review of Biology · doi:10.1086/418300 · Cited by 1,253
“The Laron syndrome is caused by defects in the GH receptor and is associated with high levels of hGH, low levels of IGF-I, and severe postnatal growth retardation (Elders et al., 1973; Godowski et al., 1989; Duquesnoy et al., 1991).”
BackgroundAssessment of Growth Parameters and Life Span of GHR/BP Gene-Disrupted Mice 1
Coschigano, K. T., Clemmons, D., Bellush, L. L., & Kopchick, J. J. (2000) · Endocrinology · doi:10.1210/endo.141.7.7586 · Cited by 611
Insulin-like growth factor 1 (IGF-1): a growth hormone
Laron, Z. (2001) · Molecular Pathology · doi:10.1136/mp.54.5.311 · Cited by 608
Self-citationMazziotti, G., Frara, S., & Giustina, A. (2018) · Endocrine Reviews · doi:10.1210/er.2018-00005 · Cited by 181
Genetic approaches to stature, pubertal timing, and other complex traits
Palmert, M. R., & Hirschhorn, J. N. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00107-0 · Cited by 135
Metadata
- Authors
- Godowski, P. J., Leung, D. W., Meacham, L. R., Galgani, J. P., Hellmiss, R., Keret, R., Rotwein, P. S., Parks, J. S., Laron, Z., & Wood, W. I.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1989-10
- Volume
- 86
- Issue
- 20
- Pages
- 8083-8087
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2050853712
- Cited by
- 604
- References
- 0
- FWCI
- 15.84
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. https://app.cochat.ai/papers/10.1073/pnas.86.20.8083
- The paper
- Godowski, P. J., Leung, D. W., Meacham, L. R., Galgani, J. P., Hellmiss, R., Keret, R., Rotwein, P. S., Parks, J. S., Laron, Z., & Wood, W. I. (1989). Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.86.20.8083
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