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

被引：136

作者：

Jüppner, H

Schipani, E

Bastepe, M

Cole, DEC

Lawson, ML

Mannstadt, M

Hendy, GN

Plotkin, H

Koshiyama, H

Koh, T

Crawford, JD

Olsen, BR

Vikkula, M

机构：

[1] Massachusetts Gen Hosp, Endocrine Unit, Dept Med, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Pediat Endocrine Unit, Dept Med, Boston, MA 02114 USA

[3] Massachusetts Gen Hosp, Pediat Endocrine Unit, Dept Pediat, Boston, MA 02114 USA

[4] Massachusetts Gen Hosp, Endocrine Unit, Dept Pediat, Boston, MA 02114 USA

[5] Harvard Univ, Sch Med, Boston, MA 02114 USA

[6] Univ Toronto, Lab Med & Pathobiol, Toronto, ON M5B 1L5, Canada

[7] Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada

[8] McGill Univ, Royal Victoria Hosp, Dept Med, Calcium Res Lab, Montreal, PQ H3A 1A1, Canada

[9] McGill Univ, Royal Victoria Hosp, Dept Physiol, Calcium Res Lab, Montreal, PQ H3A 1A1, Canada

[10] McGill Univ, Royal Victoria Hosp, Dept Human Genet, Calcium Res Lab, Montreal, PQ H3A 1A1, Canada

[11] Hyogo Kenritsu Amagasaki Hosp, Div Endocrinol & Metab, Dept Internal Med, Amagasaki, Hyogo 6600828, Japan

[12] Kyoto City Hosp, Dept Internal Med, Div Endocrinol, Kyoto 604, Japan

[13] W Haven Vet Affairs Med Ctr, Div Endocrinol & Metab, West Haven, CT 06516 USA

[14] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1998年 / 95卷 / 20期

关键词：

D O I：

10.1073/pnas.95.20.11798

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in pseudohypoparathyroidism type nb (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.

引用

页码：11798 / 11803

页数：6

共 46 条

[1] EXPRESSION CLONING OF A COMMON RECEPTOR FOR PARATHYROID-HORMONE AND PARATHYROID HORMONE-RELATED PEPTIDE FROM RAT OSTEOBLAST-LIKE CELLS - A SINGLE RECEPTOR STIMULATES INTRACELLULAR ACCUMULATION OF BOTH CAMP AND INOSITOL TRISPHOSPHATES AND INCREASES INTRACELLULAR FREE CALCIUM [J].