Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B)
Authors' conclusion
We identified the first inversion involving the regulatory region of GNAS locus leading to a maternally inherited AD-PHP1B.
Study context
- Population
- AD-PHP1B family without STX16 deletion: two affected siblings and their healthy mother
- Outcome
- Methylation and structural findings at the GNAS locus
Methodological detailsfamily genetic study, whole genome sequencing
- Family genetic study
- Whole genome sequencing
Main finding
As reported in the abstract
Whole genome sequencing (WGS): paracentric inversion with breakpoints in the NPEPL1 gene and XLαs differentially methylated region (DMR)
140-kb
Original publication
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B). J Bone Miner Res. Published 7 July 2026. doi:10.
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