Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00072095" target="_blank" >RIV/65269705:_____/19:00072095 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/19:00108568

Result on the web

<a href="https://www.nature.com/articles/s41431-019-0494-2" target="_blank" >https://www.nature.com/articles/s41431-019-0494-2</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant

Original language description

Introduction: Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of ventricular arrhythmias, and sudden death. It is the most often diagnosed hereditary arrhythmic disorder with prevalence 1:2000. The KCNQ1 gene is one of the 3 major genes (KCNQ1, KCNH2 and SCN5A) which account for 75 % of the genetically identified LQTS cases. The same KCNQ1 mutation c.926C&gt;T (p.T309I) was identified in 10 putatively unrelated families. Materials and Methods: 11 highly polymorphic short tandem repeats (STR) markers were chosen for haplotype analysis in 10 families. Multiplex PCR and fragment analysis were performed to identify variant linked to the mutation across families. Single nucleotide polymorphism (SNP) analysis was performed with HumanKaryomap-12 DNA Analysis Kit (Illumina) in one member of each family. 6219 SNPs on p arm of chromosome 11 were analysed. Results: The same haplotype was identified in the nearest region of the mutation spot in every family by STR analysis and then confirmed by SNP analysis, which also identified possible crossing-overs. The maximum size of the area shared by all families is 658407 bp and contains the whole sequence of KCNQ1 gene. The maximum size of the area shared by two families is 12633501 bp. Conclusion: Allelic frequencies of identified alleles in STR markers in control population suggest that there is only one common ancestor with mutation c.926C&gt;T in the group of families investigated in this study.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

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OECD FORD branch

10608 - Biochemistry and molecular biology

Project

<a href="/en/project/NV16-30571A" target="_blank" >NV16-30571A: Clinical significance and electrophysiological evaluation of KCNQ1 gene mutation c.926C>T (p.T309I) as a possible long QT syndrome founder mutation</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů