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

KYOKO TAKEDA; MINAO YOKOYAMA; KOZO HASHIMOTO; YUJI HIROMATSU; HIDEKATA YAMANAKA; TAEKO SHIMIZU; MASAHIDE SASAKI

doi:10.1507/endocrj.44.621

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

KYOKO TAKEDA, MINAO YOKOYAMA, KOZO HASHIMOTO, YUJI HIROMATSU, HIDEKATA YAMANAKA, TAEKO SHIMIZU, MASAHIDE SASAKI

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Keywords: G_sα mutation, Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, Hormone resistance

JOURNAL FREE ACCESS

1997 Volume 44 Issue 4 Pages 621-625

DOI https://doi.org/10.1507/endocrj.44.621

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Abstract

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 G_sα gene account for G_sα deficiency in those patients. To search a mutation hot spot of the G_sα gene in Japanese patients, we have screened exons 2-13 of the G_sα 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 G_sα gene may not be a common cause of PHP with AHO in Japanese.

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