A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis

Coffin-Siris syndrome 6 is a rare autosomal dominant genetic disorder characterized by short stature, intellectual disability, and distinctive facial features. In this study, we reported a child with Coffin-Siris syndrome 6 accompanied with liver cirrhosis, which was caused by a novel nonsense variant c.4771C > T in the ARID2 gene. This variant leads to the premature generation of a stop codon. In vivo experiment has confirmed that this variant leads to downregulation of ARID2 protein expression. The potential association between liver phenotype and ARID2 gene variant in the patient requires further investigation.