Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

Rochtus, Anne; Martin-Trujillo, Alejandro; Izzi, Benedetta; Elli, Francesca; Garin, Intza; Linglart, Agnes; Mantovani, Giovanna; Perez de Nanclares, Guiomar; Thiele, Suzanne; Decallonne, Brigitte; Van Geet, Chris; Monk, David; Freson, Kathleen

doi:10.1186/s13148-016-0175-8

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

Author:

Rochtus, Anne

Martin-Trujillo, Alejandro ; Izzi, Benedetta ; Elli, Francesca ; Garin, Intza ; Linglart, Agnes ; Mantovani, Giovanna ; Perez de Nanclares, Guiomar ; Thiele, Suzanne ; Decallonne, Brigitte ; Van Geet, Chris ; Monk, David ; Freson, Kathleen

Keywords:

Science & Technology, Life Sciences & Biomedicine, Oncology, Genetics & Heredity, Pseudohypoparathyroidism, GNAS, DNA methylation, Imprinting disorders, ALBRIGHTS HEREDITARY OSTEODYSTROPHY, PARATHYROID-HORMONE RESISTANCE, STIMULATORY G-PROTEIN, MOLECULAR DIAGNOSIS, EPIGENETIC DEFECTS, ANALYSIS REVEALS, CONTROL ELEMENT, IB, DISORDERS, HYPOMETHYLATION, Case-Control Studies, Chromogranins, DNA Methylation, GTP-Binding Protein alpha Subunits, Gs, Genome-Wide Association Study, Genomic Imprinting, Humans, Oligonucleotide Array Sequence Analysis, 0604 Genetics, 1103 Clinical Sciences, 1114 Paediatrics and Reproductive Medicine, 3105 Genetics

Abstract:

Pseudohypoparathyroidism (PHP) is caused by (epi)genetic defects in the imprinted GNAS cluster. Current classification of PHP patients is hampered by clinical and molecular diagnostic overlaps. The European Consortium for the study of PHP designed a genome-wide methylation study to improve molecular diagnosis.