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

Lyndal Henden, Bianca R. Grosz, Melina Ellis, Garth A. Nicholson, Marina Kennerson, Kelly L. Williams^*

^*Corresponding author for this work

Macquarie Medical School

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English
Pages (from-to)	47-49
Number of pages	3
Journal	Journal of Human Genetics
Volume	68
Issue number	1
Early online date	13 Sept 2022
DOIs	https://doi.org/10.1038/s10038-022-01078-1
Publication status	Published - Jan 2023

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Copyright the Author(s) 2022. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

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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.",

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AU - Williams, Kelly L.

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

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