Mutations in Exon 7 of the GTP-Binding Protein Gsα Were Not a Common Cause of Pseudohypoparathyroidism with Aibright's Hereditary Osteodystrophy in Japanese

Endocrine Journal

KOZO HASHIMOTO²  HIDEKATA YAMANAKA¹  YUJI HIROMATSU⁴  TAEKO SHIMIZU⁵  KYOKO TAKEDA³  MINAO YOKOYAMA²  MASAHIDE SASAKI³ 

[1] Miyazaki Prefectural Hospital;Second Department of Internal Medicine, Kochi Medical School;Department of Clinical Laboratory Medicine, Kochi Medical School;Fourth Department of Internal Medicine, Kurume Medical School;Toranomon Hospital

关键词: Gsα mutation;    Pseudohypoparathyroidism;    Albright's hereditary osteodystrophy;    Hormone resistance;   

DOI  :  10.1507/endocrj.44.621

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(29)Cited-By(1)The identification of unique point mutations in patients with pseudohypoparathyroidism (PHP) with Albright's hereditary osteodystrophy (AHO) in different ethinic backgrounds has proved that defects within the Gsα gene account for Gsα deficiency in those patients. To search a mutation hot spot of the Gsα gene in Japanese patients, we have screened exons 2-13 of the Gsα gene for mutations in three unrelated Japanese PHP patients with AHO. We could find no abnormalities by denaturing gradient gel electrophoresis and no mutations of sequencing of exon 7 in these subjects. This suggests that mutations in exon 7 of the Gsα gene may not be a common cause of PHP with AHO in Japanese.

【 授权许可】

Unknown