In:
Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 68, No. 1 ( 2023-01), p. 47-49
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.
Type of Medium:
Online Resource
ISSN:
1434-5161
,
1435-232X
DOI:
10.1038/s10038-022-01078-1
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2023
detail.hit.zdb_id:
1478797-0
SSG:
12
