Identity-by-descent analysis of CMTX3 links three families through a common founder.
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ABSTRACT:
SUBMITTER: Henden L
PROVIDER: S-EPMC9812773 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Publications
Identity-by-descent analysis of CMTX3 links three families through a common founder.
Henden Lyndal L Grosz Bianca R BR Ellis Melina M Nicholson Garth A GA Kennerson Marina M Williams Kelly L KL
Journal of human genetics 20220913 1
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 fr ...[more]
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