Genetic and Clinical Characteristics of Korean Patients with Isolated Hypoparathyroidism: From the Korean Hypopara Registry Study
- Authors
- Park, So Young; Eom, Young Sil; Choi, Byoungho; Yi, Hyon-Seung; Yu, Seung-Hee; Lee, Kiyoung; Jin, Hyun-Seok; Chung, Yoon-Sok; Jung, Tae Sik; Lee, Sihoon
- Issue Date
- Oct-2013
- Publisher
- KOREAN ACAD MEDICAL SCIENCES
- Keywords
- CASR; GCMB; Hypocalcemia; Hypoparathyroidism; Prepro-PTH
- Citation
- JOURNAL OF KOREAN MEDICAL SCIENCE, v.28, no.10, pp.1489 - 1495
- Journal Title
- JOURNAL OF KOREAN MEDICAL SCIENCE
- Volume
- 28
- Number
- 10
- Start Page
- 1489
- End Page
- 1495
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/14267
- DOI
- 10.3346/jkms.2013.28.10.1489
- ISSN
- 1011-8934
- 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.
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