Lab Med Online.  2015 Jan;5(1):38-43. 10.3343/lmo.2015.5.1.38.

A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia

Affiliations
  • 1Department of Laboratory Medicine, Chosun University School of Medicine, Gwangju, Korea.
  • 2Department of Rehabilitation Medicine, Wonkwang University School of Medicine, Iksan, Korea. wonrehab@wonkwang.ac.kr

Abstract

Pseudohypoparathyroidism (PHP) is a group of genetic disorders in which the kidneys fail to respond to parathyroid hormone. Genetic defects in the GNAS complex locus lead to reduced Gsalpha (alpha-subunit of the heterotrimeric stimulatory G protein) activity in PHP type Ia patients. These patients exhibit characteristics of Albright hereditary osteodystrophy (AHO) and hypocalcemia, increased parathyroid hormone, and resistance to other Gsalpha protein-coupled hormones. AHO has a wide range of manifestations such as short stature, obesity, round face, subcutaneous ossification, and bone shortening in the hands and feet. In this study, we present the case of a 47-yr-old woman who was diagnosed with PHP type Ia with AHO. She showed tetany, dizziness, irritability to light, decreased visual acuity, cognitive impairment, and motor dysfunction. Direct sequencing identified a heterozygous missense mutation in exon 6 (c.466G>A, p.Asp156Asn) in GNAS1. To our knowledge, this case is the first report in Korea of PHP type Ia caused by a heterozygous missense mutation in exon 6 (c.466G>A, p.Asp156Asn) in GNAS1.

Keyword

Albright hereditary osteodystrophy; GNAS1 gene; Missense mutation; Pseudohypoparathyroidism
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