A Case of Pseudohypoparathyroidism Type Ib Caused by Aberrant Methylation in the GNAS Complex Locus
Laboratory Medicine Online
;
: 83-87, 2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-169860
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Hormônio Paratireóideo
/
Pseudo-Hipoparatireoidismo
/
Proteínas de Ligação ao GTP
/
Extremidade Inferior
/
Alelos
/
Hiperfosfatemia
/
Epigenômica
/
Reação em Cadeia da Polimerase Multiplex
/
Hipocalcemia
/
Metilação
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Laboratory Medicine Online
Ano de publicação:
2017
Tipo de documento:
Artigo
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