Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.

Konrad PlatzerBenjamin CognéJennifer HagueCarlo L MarcelisDiana MitterKatrin OberndorffSoo-Mi ParkHans K Ploos van AmstelIngrid SimonicJasper J van der SmagtAlexander P A StegmannServi J C StevensConstance T R M StumpelMarie VincentJohannes R Lemke Rami Abou Jamra

Published in: Annals of neurology (2018)

Our results suggest that null-allele variants, and thus haploinsufficiency of CUX1, cause an isolated phenotype of DD or ID with possible catch-up development. This illustrates that such a developmental course is not necessarily genetic complex, but may also be attributed to a monogenic cause. Ann Neurol 2018;84:200-207.

Keyphrases

copy number
genome wide