Six of the identified mutations were novel, including p.[H256R]+[R282H] in GDAP1, p.T164A in HSP27, p.N71Y in AARS, and c.475-1G>T, p.L233V and p.E744M in MFN2. Each of these mutations occurs in an evolutionarily conserved region in the genes and segregates with CMT phenotype within the pedigrees (Figure 1B, 1C, 2B, 2C, 3B, 3C, Figure S2). The gene discussed is AARS1; the disease is Charcot-Marie-Tooth disease.