Ciz1-Loss Causes Female-Specific Autosomal Neurodevelopmental Disorder Through Defective X-Inactivation Maintenance
Besnard, T.; Loda, A.; Kneuss, E.; Do Souto Ferreira, L.; Ebstein, F.; Vignard, V.; Deb, W.; Küry, S.; Derradji-Costea, M. M.; Landeau-Trottier, G.; Talarmain, P.; Trochu, E.; Dutan Patino, V.; Piton, A.; Lamouche, J.-B.; Gibaud, M.; Behunova, J.; Laccone, F.; Steinkellner, H.; Blanc, X.; Broly, M.; Ranza, E.; Abumansour, I.; Hashem, M. O.; Shamseddin, H. E.; Albarakati, R.; Alfadhel, M.; Oprea, G.; Rad, A.; Abdullah Alabdi, L.; Alhaddad, B.; Bakur, K.; Alanazi, T.; Madani, J.; Ghayoor Karimiani, E.; Houlden, H.; Maroofian, R.; McNee, G. N.; Stewart, G. S.; Antonarakis, S.; Alkuraya, F.; Bezi
Show abstract
We report an autosomal recessive neurodevelopmental disorder exclusively affecting females carrying biallelic loss-of-function variants in CIZ1, a gene encoding a nuclear matrix protein essential for the maintenance of X-chromosome inactivation. Eight unrelated affected females were identified, whereas male siblings with biallelic variants were asymptomatic. We showed that loss of CIZ1 compromises the maintenance of X-chromosome inactivation, leading to an abnormal overexpression of a subset of X-linked genes.
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