Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay

• Published in: European journal of endocrinology Vol. 168; no. 2; pp. 169 - 175
• Main Authors: Yuno, Akiko, Usui, Takeshi, Yambe, Yuko, Higashi, Kiichiro, Ugi, Satoshi, Shinoda, Junji, Mashio, Yasuo, Shimatsu, Akira
• Format: Journal Article
• Language: English
• Published: Bristol BioScientifica 01.02.2013
• Subjects: Biological and medical sciences; Chromogranins; Clinical Study; DNA Methylation; Endocrinopathies; Epigenesis, Genetic; Female; Fundamental and applied biological sciences. Psychology; Genomic Imprinting; GTP-Binding Protein alpha Subunits, Gs - genetics; Humans; Male; Medical sciences; Multiplex Polymerase Chain Reaction; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases); Pseudohypoparathyroidism - genetics; Retrospective Studies; Sequence Deletion; Vertebrates: endocrinology; Endocrinopathy; Amplification; Assay; Ligature; Pseudohypoparathyroidism; Genetics; Methylation; Probe; Endocrinology; Genetic disease; Complexity

ContextPseudohypoparathyroidism type Ib (PHP-Ib) is a rare disorder resulting from genetic and epigenetic aberrations in the GNAS complex. PHP-Ib, usually defined by renal resistance to parathyroid hormone, is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of t...