Identity-by-descent analysis of CMTX3 links three families through a common founder

Lyndal Henden; Bianca R Grosz; Melina Ellis; Garth A Nicholson; Marina Kennerson; Kelly L Williams

doi:10.1038/s10038-022-01078-1

Identity-by-descent analysis of CMTX3 links three families through a common founder

J Hum Genet. 2023 Jan;68(1):47-49. doi: 10.1038/s10038-022-01078-1. Epub 2022 Sep 13.

Authors

Lyndal Henden¹, Bianca R Grosz², Melina Ellis², Garth A Nicholson^{1

3}, Marina Kennerson^{2

4}, Kelly L Williams⁵

Affiliations

¹ Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.
² Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Concord, NSW, Australia.
³ Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.
⁴ Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
⁵ Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia. [email protected].

Abstract

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.

MeSH terms

Australia / epidemiology
Charcot-Marie-Tooth Disease* / genetics
Humans
Mutation
United Kingdom / epidemiology

Supplementary concepts

Charcot-Marie-Tooth disease, X-linked recessive, 3

Grants and funding

1092023/Department of Health | National Health and Medical Research Council (NHMRC)