rs1553602821

This study identified nine unrelated individuals with heterozygous loss-of-function variants in TRIP12 (E3 ubiquitin-protein ligase gene on chromosome 2q36.3), comprising five deletion copy-number variants and four single nucleotide variants (two frameshifts, one missense, one splice-site mutation). Seven variants were de novo mutations. Clinical features included moderate to severe intellectual disability, autism spectrum disorder (6/9 patients), speech delay, and dysmorphic facial features, demonstrating that TRIP12 haploinsufficiency causes childhood-onset neurodevelopmental disorder.