A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy

摘要

Structural maintenance of chromosomes 1A (SMC1A), located on the X chromosome, encodes part of the cohesin complex, which plays vital roles in cell division, gene transcription, and chromosome structure [1]. Mutations of cohesin complex, or its regulators, can cause a spectrum of human developmental syndromes such as Cornelia de Lange syndrome (CdLS). CdLS is a congenital multisystemic disorder with widely varied characteristics ranging from mild (nonclassical phenotype) to severe (classical phenotype) [2]. Classical CdLS, caused by NIPBL mutations, is characterized by intellectual disability, global developmental delay, limb deformities, and characteristic facial dysmorphisms, while nonclassical CdLS, due to mutations in SMC1A, generally displays a milder phenotype. Here, we present a case of a de novo SMC1A mutation in a Chinese infant with nonclassical CdLS and therapy-resistant epilepsy.