WGS of patient2
Genomic DNA was extracted from peripheral blood samples of patients and their parents for exome sequencing. An Ul-Trasonicator was used to fragment DNA (1-3 g) to 150 bp. Standard Illumina libraries were prepared, followed by capture using a GenCap kit. The KLEFS spectrum disease gene panel was purchased from Clinvar. Biotinylated capture probes were designed to cover coding exons and flanking regions. DNA was eluted and amplified after hy-bridization and bead washing. The PCR product was purified and sequenced on an Illumina HiSeq X ten sequencer for paired reads of 152 bp.