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Background and Aims  Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. The wide phenotypic variability may not be completely explained by a single mutation.    Aims and Methods  To explore the existence of concomitant variants in CMT, we enrolled 189 patients and performed molecular diagnosis by application of next-generation sequencing combined with multiplex ligation-dependent probe amplification. We conducted a retrospective analysis of patients harboring coinherited variants in different genes.    Results  Four families were confirmed to possess variants in two genes, accounting for 2.1% (4/189) of the total in our cohort. One CMT1 patient with  PMP22  duplication and  MPZ  variant (c.286A&amp;gt;C, p.K96Q) exhibited moderate neuropathy with infantile onset, while her father possessing  MPZ  variant was mildly affected with adolescence onset. A CMT2 patient with heterozygous variants in  MFN2  (c.613_622delGTCACCACAG, p.V205Sfs * 26) and  GDAP1  (c.713G&amp;gt;T, p.W238L) exhibited childhood onset mild phenotype, while his mother with  MFN2  variant developed bilateral  pes cavus  only. A CMT2 patient with heterozygous variants in  MFN2  (c.839G&amp;gt;A, p.R280H) and  GDAP1  (c.3G&amp;gt;T, p.M1?) presented infantile onset and rapid progression, while her father with  MFN2  variant presented with absence of deep tendon reflexes. One sporadic CMT2 patient with early onset was confirmed harboring  de novo MFN2  variant (c.1835C&amp;gt;T, p.S612F) and heterozygous  GDAP1  variant (c.767A&amp;gt;G, p.H256R).    Conclusion  Our results suggest that the possibility of concomitant variants was not uncommon and should be considered when significant intrafamilial clinical heterogeneity is observed.

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families