Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia

Main purpose of the project is to investigate the consequences of loss-of-function variants of ZFTRAF1 on transcriptome profiling of the patient compared to control. In this data, we seen differential expression of genes involved in the autophagy and mRNA processing. To identify the globally dysregulated expression of genes, we performed tbul transcriptome profiling from RNA-seq of 2 different patient samples along with three controls. Overall design: Whole-transcritome profiling analysis for human primary fibroblast cells derived from syndromic microcephaly patients and control.