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The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
Open accessAbstract
Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHP-Ib). Because mutations in the PTH/PTH-related peptide receptor, a plausible candidate gene, had been excluded previously, we conducted a genome-wide search with four PHP-Ib kindreds and established linkage to a small telomeric region on chromosome 20q, which contains the stimulatory G protein gene. We, furthermore, showed that the genetic defect is imprinted paternally and thus is inherited in the same mode as the PTH-resistant hypocalcemia in kindreds with PHP-Ia and/or pseudo-pseudohypoparathyroidism, two related disorders caused by different stimulatory G protein mutations.
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Citations
Cited by
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Haig, D. (2004) · Annual Review of Genetics · doi:10.1146/annurev.genet.37.110801.142741 · Cited by 355
Pseudohypoparathyroidism: Diagnosis and Treatment
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Hormones and Disorders of Mineral Metabolism
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Metadata
- Authors
- Jüppner, H., Schipani, E., Bastepe, M., Cole, D. E. C., Lawson, M. L., Mannstadt, M., Hendy, G. N., Plotkin, H., Koshiyama, H., Koh, T., Crawford, J. D., Olsen, B. R., & Vikkula, M.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1998-09-29
- Volume
- 95
- Issue
- 20
- Pages
- 11798-11803
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1995625980
- Cited by
- 195
- References
- 0
- FWCI
- 8.91
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. https://app.cochat.ai/papers/10.1073/pnas.95.20.11798
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- Jüppner, H., Schipani, E., Bastepe, M., Cole, D. E. C., Lawson, M. L., Mannstadt, M., Hendy, G. N., Plotkin, H., Koshiyama, H., Koh, T., Crawford, J. D., Olsen, B. R., & Vikkula, M. (1998). The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.95.20.11798
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
