Genetic and Clinical Characteristics of Korean Patients with Isolated Hypoparathyroidism: From the Korean Hypopara Registry Study
Journal of Korean Medical Science
;
: 1489-1495, 2013.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parathyroid Hormone
/
Phenotype
/
Transcription Factors
/
Nuclear Proteins
/
Registries
/
Cohort Studies
/
Polymorphism, Single Nucleotide
/
Receptors, Calcium-Sensing
/
Asian People
/
Republic of Korea
Type of study:
Etiology study
/
Incidence study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Adult
/
Aged
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2013
Type:
Article
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