A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions

Key Points

• The study examines a specific maternal variant in GNAS that leads to pseudohypoparathyroidism and methylation defects.
• Investigation of maternal GNAS-H transcript loss.
• Assessment of abnormal methylation imprinting at GNAS-DMRs.
• Utilization of LRS for diagnosing imprinting disorders.
• Loss of maternal GNAS-H transcript occurs before abnormal methylation imprinting.
• The study confirms LRS's utility for diagnosing imprinting disorders.