A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia.
- Author:
Geon PARK
1
;
Ji Hee KIM
;
Seung Hwa RHIE
;
Eun Sun LEE
;
Se Eung NOH
Author Information
- Publication Type:Case Report
- Keywords: Albright hereditary osteodystrophy; GNAS1 gene; Missense mutation; Pseudohypoparathyroidism
- MeSH: Dizziness; Exons; Female; Foot; Hand; Humans; Hypocalcemia; Kidney; Korea; Mutation, Missense; Obesity; Parathyroid Hormone; Pseudohypoparathyroidism*; Tetany; Visual Acuity
- From:Laboratory Medicine Online 2015;5(1):38-43
- CountryRepublic of Korea
- Language:Korean
- 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.
