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KMID : 1100820170070020083
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Laboratory Medicine Online
2017 Volume.7 No. 2 p.83 ~ p.87
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A Case of Pseudohypoparathyroidism Type Ib Caused by Aberrant Methylation in the GNAS Complex Locus
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Jo Sung-Jin
Han Eun-Hee
Jang Woo-Ri
Chae Hyo-Jin
Kim Yong-Goo
Lee Gun-Dong
Cho Won-Kyung
Suh Byung-Kyu
Kim Myung-Shin
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Abstract
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Pseudohypoparathyroidism (PHP) is a rare disorder caused by genetic and epigenetic aberrations in the GNAS complex locus resulting in impaired expression of stimulatory G protein (Gsα). PHP type Ib (PHP-Ib) is characterized by hypocalcemia and hyperphosphatemia due to renal resistance to the parathyroid hormone, and is distinguished from PHP-Ia by the absence of osteodystrophic features. An 11-yr-old boy presented with poor oral intake and cramping lower limb pain after physical activity. Laboratory studies revealed hypocalcemia, hyperphosphatemia, and increased parathyroid hormone levels. The GNAS complex locus was evaluated using the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Gain of methylation in the NESP55 domain and loss of methylation in the antisense (AS) transcript, XL, and A/B domains in the maternal allele were observed. Consequently, we present a case of PHP-Ib diagnosed using MS-MLPA.
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KEYWORD
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Pseudohypoparathyroidism, Methylation, GNAS complex locus, MLPA
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