Pseudohypoparathyroidism causes
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
Pseudohypoparathyroidism is caused by mutations involving primarily the GNAS gene that results in end organ resistance to parathyroid hormone.
Causes
- Pseudohypoparathyroidism is caused by mutations that result in end-organ resistance to parathyroid hormone like:[1]
- Heterozygous GNAS inactivating mutations that reduce expression or function of Gαs
- Familial-heterozygous deletions in STX16, NESP55, and/or AS exons or loss of methylation at GNAS
- Sporadic-paternal uniparental disomy of chromosome 20q in some or methylation defect affecting all four GNAS genes
- Combination of inactivating mutations of GNAS1 and Albright’s osteodystrophy
- For a complete review of genes involved in pseudohypoparathyroidism and associated parathyroid hormone, resistance click here
References
- ↑ Lemos MC, Thakker RV (2015). “GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders”. Hum. Mutat. 36 (1): 11–9. doi:10.1002/humu.22696. PMC 4309471. PMID 25219572.
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