SUMMARY:
The mutation arose in a common ancestor.
TITLE:
Identity-by-descent analysis of CMTX3 links three families through a common founder
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…
CONTENT:
J Hum Genet. 2023 Jan;68(1):47-49. doi: 10.1038/s10038-022-01078-1. Epub 2022 Sep 13.
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.
PMID:36100665 | DOI:10.1038/s10038-022-01078-1
SOURCE:
Journal of human genetics
TAGS:
mutation
CATEGORY:
Research
SUBCATEGORY:
n/a
DATE – PUBLISHED:
2022-09-13T04:02:46Z
DATE – DOI: 2022-09-13T04:02:46Z
DATE – PUBMED: 2022 Sep 13
DATE OUTPUT MATCHED: True
DATE – ADDED:
Tue, 13 Sep 2022 06:00:00 -0400
DATE – RETRIEVED:
01/06/23 07:07AM
2023-01-06T07:07:18-05:00
FEATURED IMAGE:
Media Uploaded (image/png)
IDENTIFIER:
pmid:36100665,doi:10.1038/s10038-022-01078-1
PUBMED ID:
pubmed:36100665
DOI:
10.1038/s10038-022-01078-1
LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/36100665/
LINK – DOI:
https://doi.org/10.1038/s10038-022-01078-1
LINK – PUBLISHER:
https://www.nature.com/articles/s10038-022-01078-1
REFERENCES:
CMT Treatment Report, Urgent Research, 2023-01-06T07:07:18-05:00, https://www.cmttreatmentreport.com.
