Fig. 1

a Schematic presentation of the familial pedigrees of patients 1 and 2, with electropherograms of the heterozygous NUS1 variant occurring de novo. b Schematic presentation of the NUS1 gene structure, with identified variants that result in abnormal cDNA. Based on the cDNA sequencing, the variant [c.691 + 1G > A] creates a new splice donor site in the middle of exon 3 [c.601_602], resulting in the loss of a 91-bp section of the NUS1 exon 3. c Comparison of the gene expression levels between a control and a patient. Patient LCLs were cultured either with no treatment (NT) or with cycloheximide (CHX) to test NMD involvement. Gene expression was normalized to that of GAPDH. Error bars represent the 10th to 90th percentiles. The vertical numbers (Y-axis) represent the levels of relative gene expression. d Pathogenic NUS1 variants (including the current variant) mapped to the gene and the protein. A prenyltransferase domain is encoded by the middle of exons 2 to 5. Wild-type protein has 293 amino acids, and the prenyltransferase domain is composed of amino acids 156 to 292. This figure was designed using SMART software (http://smart.embl-heidelberg.de/)