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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Henden, Lyndal, Grosz, Bianca R., Ellis, Melina, Nicholson, Garth A., Kennerson, Marina, Williams, Kelly L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812773/
https://www.ncbi.nlm.nih.gov/pubmed/36100665
http://dx.doi.org/10.1038/s10038-022-01078-1
_version_ 1784863804040937472
author Henden, Lyndal
Grosz, Bianca R.
Ellis, Melina
Nicholson, Garth A.
Kennerson, Marina
Williams, Kelly L.
author_facet Henden, Lyndal
Grosz, Bianca R.
Ellis, Melina
Nicholson, Garth A.
Kennerson, Marina
Williams, Kelly L.
author_sort Henden, Lyndal
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9812773
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Springer Nature Singapore
record_format MEDLINE/PubMed
spelling pubmed-98127732023-01-06 Identity-by-descent analysis of CMTX3 links three families through a common founder Henden, Lyndal Grosz, Bianca R. Ellis, Melina Nicholson, Garth A. Kennerson, Marina Williams, Kelly L. J Hum Genet Brief Communication 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. Springer Nature Singapore 2022-09-13 2023 /pmc/articles/PMC9812773/ /pubmed/36100665 http://dx.doi.org/10.1038/s10038-022-01078-1 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Brief Communication
Henden, Lyndal
Grosz, Bianca R.
Ellis, Melina
Nicholson, Garth A.
Kennerson, Marina
Williams, Kelly L.
Identity-by-descent analysis of CMTX3 links three families through a common founder
title Identity-by-descent analysis of CMTX3 links three families through a common founder
title_full Identity-by-descent analysis of CMTX3 links three families through a common founder
title_fullStr Identity-by-descent analysis of CMTX3 links three families through a common founder
title_full_unstemmed Identity-by-descent analysis of CMTX3 links three families through a common founder
title_short Identity-by-descent analysis of CMTX3 links three families through a common founder
title_sort identity-by-descent analysis of cmtx3 links three families through a common founder
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812773/
https://www.ncbi.nlm.nih.gov/pubmed/36100665
http://dx.doi.org/10.1038/s10038-022-01078-1
work_keys_str_mv AT hendenlyndal identitybydescentanalysisofcmtx3linksthreefamiliesthroughacommonfounder
AT groszbiancar identitybydescentanalysisofcmtx3linksthreefamiliesthroughacommonfounder
AT ellismelina identitybydescentanalysisofcmtx3linksthreefamiliesthroughacommonfounder
AT nicholsongartha identitybydescentanalysisofcmtx3linksthreefamiliesthroughacommonfounder
AT kennersonmarina identitybydescentanalysisofcmtx3linksthreefamiliesthroughacommonfounder
AT williamskellyl identitybydescentanalysisofcmtx3linksthreefamiliesthroughacommonfounder

Ejemplares similares