A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.

Details

Serval ID
serval:BIB_E693F5FF3406
Type
Article: article from journal or magazin.
Collection
Publications
Title
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.
Journal
Journal of cardiovascular electrophysiology
Author(s)
Bhuiyan Z.A., Hamdan M.A., Shamsi E.T., Postma A.V., Mannens M.M., Wilde A.A., Al-Gazali L.
ISSN
1540-8167 (Electronic)
ISSN-L
1045-3873
Publication state
Published
Issued date
09/2007
Peer-reviewed
Oui
Volume
18
Number
10
Pages
1060-1066
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Previously, autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT [1]) was mapped to chromosome 1q42-43 with identification of pathogenic mutations in RYR2. Autosomal recessive CPVT (2) was mapped to chromosome 1p13-21, leading to the identification of mutations in CASQ2. In this study, we aimed to elucidate clinical phenotypes of a new variant of CPVT (3) in an inbred Arab family and also delineate the chromosomal location of the gene causing CPVT (3).
In a highly inbred family, clinical symptoms of CPVT appeared early in childhood (7-12 years) and in three of the four cases, the first appearance of symptoms turned into a fatal outcome. Parents of the affected children were first-degree cousins and without any symptoms. Segregation analysis suggested an autosomal recessive inheritance. A genome-wide search using polymorphic DNA markers mapped the disease locus to a 25-Mb interval on chromosome 7p14-p22. A maximal multipoint LOD score of 3.17 was obtained at marker D7S493. Sequencing of putative candidate genes, SP4, NPY, FKBP9, FKBP14, PDE1C, and TBX20, in and around this locus, did not reveal any mutation.
We have identified a novel highly malignant autosomal recessive form of CPVT and mapped this disorder to a 25-Mb interval on chromosome 7p14-p22.

Keywords
Age Factors, Catecholamines/genetics, Child, Chromosome Mapping/methods, Chromosomes, Human, Pair 7/genetics, Female, Genetic Linkage/genetics, Haplotypes/genetics, Humans, Lod Score, Male, Pedigree, Polymorphism, Genetic/genetics, Tachycardia, Ventricular/diagnosis, Tachycardia, Ventricular/genetics, Tachycardia, Ventricular/mortality
Pubmed
Web of science
Create date
01/03/2018 15:34
Last modification date
20/08/2019 16:09
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