The set-binding factor 2 gene (SBF2; MIM: 607697), associated with Charcot-Marie-Tooth (CMT) disease, type 4B2 (MIM: 604563) was detected in the proband of family GEL-064 who harboured biallelic compound heterozygous variants; a missense variant (c.620G>T p.(Gly207Val)) and a splice site variant (c.2536+1G>A). Here, SBF2 is linked to Charcot-Marie-Tooth disease.