Genomic DNA from the proband and parents were processed using the Agilent Clinical Research Exome kit. The targeted regions (exonic regions and flanking splicing junctions) were sequenced simultaneously by massively parallel (NextGen) sequencing on an Illumina HiSeq sequencing system with 100-bp paired-end reads with a mean depth of coverage of 104× (quality threshold 95.3%) (Supplemental Table 1). Bidirectional sequences were assembled, aligned to reference gene sequences based on GRCh37/UCSC hg19, and analyzed for sequence variants using XomeDx software (GeneDx). Variants were filtered based on predicted loss-of-function or missense mutation, presence of gene or variant in the Human Gene Mutation Database, and MAF of <0.01 (Stenson et al. 2014 (link)). MAFs were obtained from the 1000 Genomes Project using the Ensembl Variant Effect Predictor (VEP) tool. The remaining variants were analyzed by SIFT and PolyPhen-2 (Supplemental Table 4; Sim et al. 2012 (link); Adzhubei et al. 2013 (link)). Capillary sequencing was used to confirm all potentially pathogenic variants identified in the proband and parent samples. The identified variant was submitted to ClinVar (ID 279987) (Landrum et al. 2014 (link)).