De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

Alka Malhotra Alban ZieglerLi ShuRenee PerrierLouise Amlie-WolfElizabeth WohlerNara Lygia de Macena SobreiraEstelle ColinAdeline VanderverOmar SherbiniKatrien StouffsEmmanuel ScalaisAlessandro SerrettiMagalie BarthBenjamin NavetPaul RollierHui XiHua WangHainan ZhangDenise L PerryAlessandra FerrariniRoberto ColomboAlexander PeplerAdele SchneiderKiyotaka TomiwaNobuhiko OkamotoNaomichi MatsumotoNoriko MiyakeRyan TaftXiao MaoDominique Bonneau

Published in: Journal of medical genetics (2020)

These findings indicate that rare de novo variants in LMBRD2 can lead to a previously unrecognised early-onset neurodevelopmental disorder. Further investigation of individuals harbouring LMBRD2 variants may lead to a better understanding of the function of this ubiquitously expressed gene.

Keyphrases

early onset
copy number
late onset
genome wide
white matter
intellectual disability
resting state