Genetic and Clinical Characteristics of Korean Patients with Isolated Hypoparathyroidism: From the Korean Hypopara Registry Study
Journal of Korean Medical Science
;
: 1489-1495, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-212600
ABSTRACT
Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to analyze gene mutations in a large cohort of Korean patients with sporadic or familial IH. We recruited 23 patients. They showed a broad range of onset age and various values of biochemical data. Whole exome sequencing was performed on two affected cases and one unaffected individual in a family. All coding exons and exon-intron borders of GCMB, CASR, and prepro-PTH were sequenced using PCR-amplified DNA. In one family who underwent the whole exome sequencing analysis, approximately 300 single nucleotide changes emerged as candidates for genetic alteration. Among them, we identified a functional mutation in exon 2 of GCMB (C106R) in two affected cases. Besides, heterozygous gain-of-function mutations in the CASR gene were found in other subjects; D410E and P221L. We also found one single nucleotide polymorphism (SNP) in the prepro-PTH gene, five SNPs in the CASR gene, and four SNPs in the GCMB gene. The current study represents a variety of biochemical phenotypes in IH patients with the molecular genetic diagnosis of IH.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Hormônio Paratireóideo
/
Fenótipo
/
Fatores de Transcrição
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Proteínas Nucleares
/
Sistema de Registros
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Estudos de Coortes
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Polimorfismo de Nucleotídeo Único
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Receptores de Detecção de Cálcio
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Povo Asiático
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República da Coreia
Tipo de estudo:
Estudo de etiologia
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Estudo de incidência
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Estudo observacional
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Estudo prognóstico
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Fatores de risco
Limite:
Adulto
/
Idoso
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2013
Tipo de documento:
Artigo
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