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.