scholarly journals A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Epilepsia ◽  
2013 ◽  
Vol 54 (7) ◽  
pp. 1298-1306 ◽  
Author(s):  
Laura Licchetta ◽  
Tommaso Pippucci ◽  
Francesca Bisulli ◽  
Gaetano Cantalupo ◽  
Pamela Magini ◽  
...  
Keyword(s):  
Founder Haplotype

P068 An unusual DR2 founder haplotype from where and when

2019 ◽  
Vol 80 ◽  
pp. 103
Author(s):  
Anajane G. Smith ◽  
Chul-Woo Pyo ◽  
Wyatt C. Nelson ◽  
Shalini E. Pereira ◽  
Daniel E. Geraghty
Keyword(s):  
Founder Haplotype

scholarly journals Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lianne M. Reus ◽  
Iris E. Jansen ◽  
Merel O. Mol ◽  
Fred van Ruissen ◽  
Jeroen van Rooij ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Genetic Variants ◽  
Genome Wide Association ◽  
Risk Haplotype ◽  
Genome Wide Association Studies ◽  
Founder Haplotype ◽  
Risk Variants ◽  
Genome Wide ◽  
Rare Genetic Variants ◽  
Repeat Expansions

AbstractGenetic factors play a major role in frontotemporal dementia (FTD). The majority of FTD cannot be genetically explained yet and it is likely that there are still FTD risk loci to be discovered. Common variants have been identified with genome-wide association studies (GWAS), but these studies have not systematically searched for rare variants. To identify rare and new common variant FTD risk loci and provide more insight into the heritability of C9ORF72-related FTD, we performed a GWAS consisting of 354 FTD patients (including and excluding N = 28 pathological repeat carriers) and 4209 control subjects. The Haplotype Reference Consortium was used as reference panel, allowing for the imputation of rare genetic variants. Two rare genetic variants nearby C9ORF72 were strongly associated with FTD in the discovery (rs147211831: OR = 4.8, P = 9.2 × 10−9, rs117204439: OR = 4.9, P = 6.0 × 10−9) and replication analysis (P < 1.1 × 10−3). These variants also significantly associated with amyotrophic lateral sclerosis in a publicly available dataset. Using haplotype analyses in 1200 individuals, we showed that these variants tag a sub-haplotype of the founder haplotype of the repeat expansion that was previously found to be present in virtually all pathological C9ORF72 G4C2 repeat lengths. This new risk haplotype was 10 times more likely to contain a C9ORF72 pathological repeat length compared to founder haplotypes without one of the two risk variants (~22% versus ~2%; P = 7.70 × 10−58). In haplotypes without a pathologic expansion, the founder risk haplotype had a higher number of repeats (median = 12 repeats) compared to the founder haplotype without the risk variants (median = 8 repeats) (P = 2.05 × 10−260). In conclusion, the identified risk haplotype, which is carried by ~4% of all individuals, is a major risk factor for pathological repeat lengths of C9ORF72 G4C2. These findings strongly indicate that longer C9ORF72 repeats are unstable and more likely to convert to germline pathological C9ORF72 repeat expansions.

A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada

Neurology ◽  
2006 ◽  
Vol 67 (12) ◽  
pp. 2239-2242 ◽  
Author(s):  
P. N. Valdmanis ◽  
D. Brunet ◽  
J. St-Onge ◽  
L. Weston ◽  
G. A. Rouleau ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Eastern Canada ◽  
Sensory Ataxia ◽  
Founder Haplotype

Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder-Haplotype Analysis

2006 ◽  
Vol 70 (6) ◽  
pp. 802-811 ◽  
Author(s):  
I. Yuasa ◽  
K. Umetsu ◽  
S. Harihara ◽  
A. Kido ◽  
A. Miyoshi ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Founder Haplotype

scholarly journals Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region

Neurogenetics ◽  
2008 ◽  
Vol 9 (3) ◽  
Author(s):  
Megan Brewer ◽  
Febriani Changi ◽  
Anthony Antonellis ◽  
Kurt Fischbeck ◽  
Patsie Polly ◽  
...  
Keyword(s):  
Charcot Marie Tooth ◽  
Founder Haplotype

scholarly journals TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child - evidence for chimerism involving a common mutant founder haplotype: case report

BMC Cancer ◽  
2011 ◽  
Vol 11 (1) ◽  
Author(s):  
Edaise M da Silva ◽  
Maria Isabel W Achatz ◽  
Ghyslaine Martel-Planche ◽  
André L Montagnini ◽  
Magali Olivier ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Case Report ◽  
Tp53 Mutation ◽  
Male Child ◽  
Founder Haplotype ◽  
Cancer Tissues

Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD)

1998 ◽  
Vol 103 (3) ◽  
pp. 323-327 ◽  
Author(s):  
Kazuhiro Kobayashi ◽  
Yutaka Nakahori ◽  
Kunihiko Mizuno ◽  
Masashi Miyake ◽  
Toshiyuki Kumagai ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Haplotype Analysis ◽  
Congenital Muscular Dystrophy ◽  
Founder Haplotype
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