The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3 |
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| Authors: | H. Jü ppner, E. Schipani, M. Bastepe, D. E. C. Cole, M. L. Lawson, M. Mannstadt, G. N. Hendy, H. Plotkin, H. Koshiyama, T. Koh, J. D. Crawford, B. R. Olsen, M. Vikkula |
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| Affiliation: | H. Jüppner, E. Schipani, M. Bastepe, D. E. C. Cole, M. L. Lawson, M. Mannstadt, G. N. Hendy, H. Plotkin, H. Koshiyama, T. Koh, J. D. Crawford, B. R. Olsen, and M. Vikkula |
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| Abstract: | 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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