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KMID : 1100820150050010038
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Laboratory Medicine Online
2015 Volume.5 No. 1 p.38 ~ p.43
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A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia
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Park Kun
Kim Ji-Hee
Lee Seung-Hwa
Lee Eun-Sun
No Se-Eung
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Abstract
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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 Gsα (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 Gsα 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.
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KEYWORD
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Albright hereditary osteodystrophy, GNAS1 gene, Missense mutation, Pseudohypoparathyroidism
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