title: The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
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.
authors.affiliation: Endocrine, Departments of Medicine and Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. jueppner@helix.mgh.harvard.edu
authors.forename: H
authors.initials: H
authors.lastname: Jüppner
authors.forename: E
authors.initials: E
authors.lastname: Schipani
authors.forename: M
authors.initials: M
authors.lastname: Bastepe
authors.forename: D E
authors.initials: DE
authors.lastname: Cole
authors.forename: M L
authors.initials: ML
authors.lastname: Lawson
authors.forename: M
authors.initials: M
authors.lastname: Mannstadt
authors.forename: G N
authors.initials: GN
authors.lastname: Hendy
authors.forename: H
authors.initials: H
authors.lastname: Plotkin
authors.forename: H
authors.initials: H
authors.lastname: Koshiyama
authors.forename: T
authors.initials: T
authors.lastname: Koh
authors.forename: J D
authors.initials: JD
authors.lastname: Crawford
authors.forename: B R
authors.initials: BR
authors.lastname: Olsen
authors.forename: M
authors.initials: M
authors.lastname: Vikkula
mesh_terms: D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics; D008040:Genetic Linkage; D018392:Genomic Imprinting; D006239:Haplotypes; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics; D008126:Lod Score; D008297:Male; D009154:Mutation; D010375:Pedigree; D011547:Pseudohypoparathyroidism / Q000145:classification / Q000235:genetics*
chemical_list: D019204:GTP-Binding Proteins