The proband of S37 with a 2.1-Mb microdeletion at 1q44 that disrupts the infantile spasms candidate gene HNRNPU reported by the WES study. A) A local view of the 1q44 deletion and genes in the deleted interval. The black arrows are the direction of transcription of genes. B) The clinical features of a proband with a dysmorphic face. C) Structural MRI analysis showed delayed myelination in the brain. D) qPCR confirmed the copy number loss in probands using three different primers (P1-P3) within HNRNPU. *p < 0.01, proband vs parents and control.