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International Journal of Endocrinology
Volume 2011 (2011), Article ID 509549, 5 pages
Case Report

Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

1Gout Laboratory, The Affiliated Hospital of Qingdao University Medical College, 16 Jiangsu Road, Qingdao 266003, China
2Graduate School, Peking Union Medical College, Beijing 100081, China
3Center of Genetics, National Research Institute for Family Planning, Beijing 100081, China
4Center of Genetics, World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing 100081, China

Received 15 February 2011; Accepted 23 May 2011

Academic Editor: Furio M. Pacini

Copyright © 2011 Zhi-Min Miao et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Pseudohypoparathyroidism type Ia (PHP Ia) is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO) phenotype. PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha subunit (Gsa). A patient with typical clinical manifestations of pseudohypoparathyroidism (PHP) (round face, short stature, centripetal obesity, brachydactyly, and multi-hormone resistance: parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), and gonadotropins) presented at our center. The sequence of the GNAS gene from the patient and her families revealed a novel missense mutation (Y318H) in the proband and her mother. An in vitro Gsa functional study showed that Gsa function was significantly impaired. These results stress the importance of GNAS gene investigation.