RESULTS
Whole exome sequencing was performed and analysed as previously
described(Tham et al., 2015) and revealed a hemizygous four basepair
deletion in EIF2S3, c.1394_1397del, located on the X-chromosome in both
boys and their mother who was a healthy heterozygous carrier of the
variant. The variant leads to a premature stop codon p.(Ile465Serfs*4)
in the final exon of the gene (Fig. 2).