The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

Jüppner, H;Schipani, E;Bastepe, M;Cole, D E;Vikkula, Miikka;et.al.
(1998) Proceedings of the National academy of sciences of the United States of America — Vol. 95, n° 20, p. 11798-11803 (1998)

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  • Jüppner, H
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  • Schipani, E
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  • Bastepe, M
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  • Cole, D E
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  • Vikkula, MiikkaUCLouvain
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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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Jüppner, H., Schipani, E., Bastepe, M., Cole, D. E., 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 of the United States of America, 95(20), 11798-11803. https://hdl.handle.net/2078.5/159731 (Original work published 1998)