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KMID : 0191120130280101489
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Journal of Korean Medical Science
2013 Volume.28 No. 10 p.1489 ~ p.1495
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Genetic and Clinical Characteristics of Korean Patients with Isolated Hypoparathyroidism: From the Korean Hypopara Registry Study
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Park So-Young
Eom Young-Sil
Choi Byoung-ho
Yi Hyon-Seung
Yu Seung-Hee
Lee Ki-Young
Jin Hyun-Seok
Chung Yoon-Sok
Jung Tae-Sik
Lee Si-Hoon
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Abstract
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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.
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KEYWORD
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CASR, GCMB, Hypocalcemia, Hypoparathyroidism, Prepro-PTH
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