Of the 35 unrelated patients meeting SMARD1 or CMT2S criteria, the whole-exome sequencing screening identified homozygous or compound heterozygous IGHMBP2 variants in eight patients of seven families including six patients (of which two were in the same family) with SMARD1 and two patients with CMT2S. The gene discussed is IGHMBP2; the disease is Charcot-Marie-Tooth disease axonal type 2S.