Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.
Joanna Yuet-Ling TungSophie Hon Yu LaiLeung Kuen Sandy AuKit San YeungAnita Sik Yau KanFlorence LoongDiva D DeLeónJennifer M KalishArupa GangulyBrian Hon Yin ChungKelvin Yuen Kwong ChanPublished in: International journal of pediatric endocrinology (2020)
This case highlights the importance of integrating the clinical presentation and subsequent clinical course, together with radiological, genetic and histological findings in the definitive diagnosis of this rare yet clinically important entity. In addition, this is the first report that demonstrated the level of paternal inherited c.1792 T pathogenic variant in the pancreatic tissue being directly correlated to the mosaic level of pUPD.