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Case Reports
. 2010 Feb;25(2):317-20.
doi: 10.3346/jkms.2010.25.2.317. Epub 2010 Jan 19.

Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea

Mi Yeon Kim  1 , Alice Hyun Kyung Tan, Chang-Seok Ki, Ji In Lee, Hye Won Jang, Hyun Won Shin, Sun Wook Kim, Yong-Ki Min, Myung-Shik Lee, Moon-Kyu Lee, Kwang-Won Kim, Jae Hoon Chung
Affiliations
Case Reports

Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea

Mi Yeon Kim et al. J Korean Med Sci. 2010 Feb.

Abstract

Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). Here we describe members of a Korean family with a heterozygous Pro221Leu mutation causing ADH. This case is the first report in Korea.

Keywords: Hypocalcemia; Hypoparathyroidism; Receptors, Calcium-Sensing.

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Figures

Fig. 1
Fig. 1
The pedigree of the family. One of the uncles deceased in his third decade without clear cause. Closed black circles indicate the affected persons (proband, sibling, and father). The arrow indicates the proband. Closed gray circle indicates proband's mother without mutation in calcium-sensing receptor (CaSR) gene. The remaining members of the family (open circles) were not included in this study because of inaccessibility.
Fig. 2
Fig. 2
Direct sequencing of the calcium-sensing receptor (CaSR) gene.
See this image and copyright information in PMC

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