An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes

Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs) Neurogenetics (Aug 27, 2024; in press) https://t.co/vEK05hqnJP https://t.co/Cjgbs0RSNF

Loss-of-function of activity-dependent neuro-protective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome Eur J Hum Genet 32, 630–638 (June 2024 issue) https://t.co/I1pSuvt9p0 https://t.co/PQ3LsjaoQI https://t.co/mgx

Since the first significant CTCF ZnF mutations were found in sporadic Wilms tumors with CTCF LOH https://t.co/oLhnttPtgj, it is truly remarkable that the first similar but germ line ZnF I(446)K CTCF mutation was also found in Wilms tumor of an NDD patient:

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project The American J of Hum Genet (May 21, 2024) https://t.co/XDwrslQVVl https://t.co/2zXcCBg65G