Dissemin is shutting down on January 1st, 2025

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National Academy of Sciences, Proceedings of the National Academy of Sciences, 20(95), p. 11798-11803, 1998

DOI: 10.1073/pnas.95.20.11798

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

Journal article published in 1998 by H. Jüppner, E. Schipani, M. Bastepe ORCID, D. E. C. Cole, M. L. Lawson, M. Mannstadt, G. N. Hendy, H. Plotkin, H. Koshiyama, T. Koh, J. D. Crawford, B. R. Olsen, Miikka Vikkula
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.