Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.
Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Concord, NSW, Australia.
J Hum Genet. 2023 Jan;68(1):47-49. doi: 10.1038/s10038-022-01078-1. Epub 2022 Sep 13.
A large 78 kb insertion from chromosome 8q24.3 into Xq27.1 was identified as the cause of CMTX3 in three families of European descent from Australia (CMT193, CMT180) and New Zealand/United Kingdom (CMT623). Using the relatedness tool XIBD to perform genome-wide identity-by-descent (IBD) analysis on 16 affected individuals from the three families demonstrated they all share the CMTX3 disease locus identical-by-descent, confirming the mutation arose in a common ancestor. Relationship estimation from IBD segment data has genetically linked all three families through 6th and 7th degree relatives.
一个来自 8q24.3 染色体到 Xq27.1 的大型 78kb 插入被鉴定为导致三个欧洲裔家族中的 CMTX3 的原因，这三个家族分别来自澳大利亚（CMT193、CMT180）和新西兰/英国（CMT623）。使用相关工具 XIBD 对来自这三个家族的 16 名受影响个体进行全基因组的同源性分析（IBD）表明，他们都具有相同的 CMTX3 疾病位点，这证实了突变发生在一个共同的祖先中。从 IBD 片段数据进行的关系估计通过 6 度和 7 度亲属将这三个家族在基因上联系起来。
