METHODS
We performed whole-exome sequencing (WES) and Sanger sequencing as previously reported.5 For WES, the sequencing library was prepared using SureSelect Human All Exon v5 bait (Agilent, Santa Clara, CA, USA), followed by paired-end sequencing using a HiSeq 2500 NGS system (Illumina, San Diego, CA, USA). Sanger sequencing, based on genomic DNA, was performed using an ABI 3130xL Genetic Analyzer and BigDye Terminator 3.1 (Applied Biosystems, Foster City, CA, USA). The details of the analyses are presented in the supplementary methods.
Informed assent and written informed consent were obtained from the proband and proband’s parents, respectively. This research was approved by the institutional review board of the Nagoya University Graduate School of Medicine.