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

被引：2

作者：

Henden, Lyndal ^{[1
]}

Grosz, Bianca R. ^{[2
]}

Ellis, Melina ^{[2
]}

Nicholson, Garth A. ^{[1
,3
]}

Kennerson, Marina ^{[2
,4
]}

Williams, Kelly L. ^{[1
]}

机构：

[1] Macquarie Univ, Ctr Motor Neuron Dis Res, Fac Med Hlth & Human Sci, Sydney, NSW, Australia

[2] ANZAC Res Inst SLHD, Northcott Neurosci Lab, Concord, NSW, Australia

[3] Concord Hosp, Mol Med Lab, Sydney, NSW, Australia

[4] Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia

来源：

JOURNAL OF HUMAN GENETICS | 2023年 / 68卷 / 01期

基金：

英国医学研究理事会;

关键词：

EPILEPSY;

D O I：

10.1038/s10038-022-01078-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：47 / 49

页数：3

共 5 条

[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
Journal of Human Genetics, 2023, 68 : 47 - 49
[2] Incorporating larger families in identity-by-descent based linkage analysis
Loesgen, S
Scholz, M
Schmidt, S
Bickeböller, H
GENETIC EPIDEMIOLOGY, 1999, 17 : S235 - S240
[3] Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation
Hsueh, Wen-Chi
Nair, Anup K.
Kobes, Sayuko
Chen, Peng
Goring, Harald H. H.
Pollin, Toni I.
Malhotra, Alka
Knowler, William C.
Baier, Leslie J.
Hanson, Robert L.
CIRCULATION-CARDIOVASCULAR GENETICS, 2017, 10 (06)
[4] Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases
Lyndal Henden
Natalie A. Twine
Piotr Szul
Emily P. McCann
Garth A. Nicholson
Dominic B. Rowe
Matthew C. Kiernan
Denis C. Bauer
Ian P. Blair
Kelly L. Williams
npj Genomic Medicine, 5
[5] Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases
Henden, Lyndal
Twine, Natalie A.
Szul, Piotr
McCann, Emily P.
Nicholson, Garth A.
Rowe, Dominic B.
Kiernan, Matthew C.
Bauer, Denis C.
Blair, Ian P.
Williams, Kelly L.
NPJ GENOMIC MEDICINE, 2020, 5 (01)

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