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, Scopus)

• 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.