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PMID: 9751745 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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 ·Vol. 95 ·No. 20 ·1998-09-29 ·Pages 11798-803

Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M

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.

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 20/genetics Female GTP-Binding Proteins/genetics Genetic Linkage Genomic Imprinting Haplotypes Humans Hypocalcemia/genetics Lod Score Male Mutation Pedigree Pseudohypoparathyroidism/classification,genetics
Chemicals
GTP-Binding Proteins
Authors & Affiliations
13 authors, click to expand affiliations / ORCID
Jüppner H
Endocrine, Departments of Medicine and Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. [email protected]
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
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.95.20.11798
Email
[email protected]
Published
1998-09-29
Pages
11798-803
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC21720
Subset
IM
Grants
PHS HHS · R01 36819 · United States
PHS HHS · R01 46718-06 · United States
External Links
PubMed source DOI: 10.1073/pnas.95.20.11798 PMC Full Text View journal details
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