Affordable Access

Publisher Website

Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

Authors
Journal
International Journal of Endocrinology
1687-8337
Publisher
Hindawi Publishing Corporation
Publication Date
Volume
2011
Identifiers
DOI: 10.1155/2011/509549
Keywords
  • Case Report
Disciplines
  • Biology

Abstract

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.

There are no comments yet on this publication. Be the first to share your thoughts.