Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses.
Jonna M E MännistöJasmin J HopkinsThomas I HewatFatima NasserJoseph BurrageAntonia DastamaniAlice MiranteNuala MurphyJessica RzasaJennifer KerkhofRaissa RelatorMatthew B JohnsonThomas W LaverLuke WeymouthJayne A L HoughtonMatthew N WakelingBekim SadikovicEmma L DempsterSarah E. FlanaganPublished in: The Journal of clinical endocrinology and metabolism (2024)
Our findings confirm a role for KDM6A partial gene duplications in the etiology of KS and highlight the importance of performing in-depth molecular genetic analysis to properly assess the clinical significance of VUS's in the KDM6A gene.