The only nonsense mutation (chr17:15142830C->G) that is specific to Tianjiao1 is located in the PMP22 gene (peripheral myelin protein 22 [HGNC 9118]) and has been associated with Charcot-Marie-Tooth disease (CMT1A, [MIM 118220]) [41]. This evidence concerns the gene PMP22 and Charcot-Marie-Tooth disease type 1A.