A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia
Laboratory Medicine Online
;
: 38-43, 2015.
Artigo
em Coreano
| WPRIM
| ID: wpr-148918
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Hormônio Paratireóideo
/
Pseudo-Hipoparatireoidismo
/
Tetania
/
Acuidade Visual
/
Éxons
/
Mutação de Sentido Incorreto
/
Tontura
/
Pé
/
Mãos
/
Hipocalcemia
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Laboratory Medicine Online
Ano de publicação:
2015
Tipo de documento:
Artigo
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