RT Journal Article
SR Electronic
T1 Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 289
OP 295
DO 10.1136/jmedgenet-2019-106277
VO 57
IS 5
A1 Patrizia Sarogni
A1 Maria M Pallotta
A1 Antonio Musio
YR 2020
UL http://jmg.bmj.com/content/57/5/289.abstract
AB Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. In this review, we will discuss how perturbations in those biological processes contribute to CdLS phenotype and will emphasise the state-of-art of CdLS therapeutic approaches.