Lack of GNAS re-methylation during oogenesis may be a cause of sporadic pseudohypoparathyroidism type Ib (PHP1B).

Milioto A., Reyes M., Hanna P., Kiuchi Z., Turan S., Zeve D., ...Daha Fazla

The Journal of clinical endocrinology and metabolism, cilt.107, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 107
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1210/clinem/dgab830
  • Dergi Adı: The Journal of clinical endocrinology and metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, Chemical Abstracts Core, CINAHL, EMBASE, Food Science & Technology Abstracts, Gender Studies Database, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: pseudohypoparathyroidism type Ib, PHP1B, in vitro fertilization, IVF, intracytoplasmic sperm injection, ICSI, PTH, calcium, phosphate, Gs-alpha, Gs alpha, STX16-GNAS, epigenetics, GNAS methylation, IMPRINTING CONTROL ELEMENT, AUTOSOMAL-DOMINANT, EPIGENETIC CHANGES, MEIOTIC ARREST, EXON A/B, METHYLATION, DELETION, MUTATIONS, DISORDER, DEFECTS
  • Marmara Üniversitesi Adresli: Evet

Özet

Context: Pseudohypoparathyroidism type Ib (PHP1B) is characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone resistance in the proximal renal tubules. Maternal pathogenic STX16/GNAS variants leading to maternal epigenetic GNAS changes impair expression of the stimulatory G protein alpha-subunit (Gsa) thereby causing autosomal dominant PHP1B. In contrast, genetic defects responsible for sporadic PHP1B (sporPHP1B) remain mostly unknown.