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Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11798-803.

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

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1
Endocrine, Departments of Medicine and Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. jueppner@helix.mgh.harvard.edu

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.

PMID:
9751745
PMCID:
PMC21720
[Indexed for MEDLINE]
Free PMC Article
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