Most patients with YAOS in other cohorts carried variant IVS8+158 resided in the intron 8 splicing region of NOD2. Nearly 30% carried variant R702W located in exon 4 or variant 1007fs in exon 11, situated between the NACHT and LRR domains (3, 11, 16, 17, 25, 30). The gene discussed is NOD2; the disease is Yao syndrome.