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Long QT syndrome in South Africa: the results of comprehensive genetic screening
ABSTRACT: Congenital long QT syndrome (cLQTS) is a genetic disorder predisposing to ventricular arrhythmia, syncope and sudden death. Over 700 different cLQTS-causing mutations in 13 genes are known. The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Clinics Cardive Publishing
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772322/ https://www.ncbi.nlm.nih.gov/pubmed/24217263 http://dx.doi.org/10.5830/CVJA-2013-032 |
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author | Hedley, Paula L Durrheim, Glenda A Hendricks, Firzana Corfield, Valerie A Jespersgaard, Cathrine Støvring, Birgitte Pham, Tam T Christiansen, Michael Goosen, Althea Brink, Paul A |
author_facet | Hedley, Paula L Durrheim, Glenda A Hendricks, Firzana Corfield, Valerie A Jespersgaard, Cathrine Støvring, Birgitte Pham, Tam T Christiansen, Michael Goosen, Althea Brink, Paul A |
author_sort | Hedley, Paula L |
collection | PubMed |
description | ABSTRACT: Congenital long QT syndrome (cLQTS) is a genetic disorder predisposing to ventricular arrhythmia, syncope and sudden death. Over 700 different cLQTS-causing mutations in 13 genes are known. The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening). Fourteen disease-causing mutations were identified, eight (including the founder mutation) in KCNQ1, five in KCNH2 and one in KCNE1. Two mutations were novel. Two double heterozygotes were found among the 23 families (8.5%) carrying the founder mutation. In conclusion, cLQTS in South Africa reflects both a strong founder effect and a genetic spectrum similar to that seen in other populations. Consequently, five-gene screening should be offered as a standard screening option, as is the case internationally. This will disclose compound and double heterozygotes. Fivegene screening will most likely be even more informative in other South African sub-populations with a greater genetic diversity. |
format | Online Article Text |
id | pubmed-3772322 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Clinics Cardive Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-37723222013-09-13 Long QT syndrome in South Africa: the results of comprehensive genetic screening Hedley, Paula L Durrheim, Glenda A Hendricks, Firzana Corfield, Valerie A Jespersgaard, Cathrine Støvring, Birgitte Pham, Tam T Christiansen, Michael Goosen, Althea Brink, Paul A Cardiovasc J Afr Cardiovascular Topics ABSTRACT: Congenital long QT syndrome (cLQTS) is a genetic disorder predisposing to ventricular arrhythmia, syncope and sudden death. Over 700 different cLQTS-causing mutations in 13 genes are known. The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening). Fourteen disease-causing mutations were identified, eight (including the founder mutation) in KCNQ1, five in KCNH2 and one in KCNE1. Two mutations were novel. Two double heterozygotes were found among the 23 families (8.5%) carrying the founder mutation. In conclusion, cLQTS in South Africa reflects both a strong founder effect and a genetic spectrum similar to that seen in other populations. Consequently, five-gene screening should be offered as a standard screening option, as is the case internationally. This will disclose compound and double heterozygotes. Fivegene screening will most likely be even more informative in other South African sub-populations with a greater genetic diversity. Clinics Cardive Publishing 2013-08 /pmc/articles/PMC3772322/ /pubmed/24217263 http://dx.doi.org/10.5830/CVJA-2013-032 Text en Copyright © 2010 Clinics Cardive Publishing http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Cardiovascular Topics Hedley, Paula L Durrheim, Glenda A Hendricks, Firzana Corfield, Valerie A Jespersgaard, Cathrine Støvring, Birgitte Pham, Tam T Christiansen, Michael Goosen, Althea Brink, Paul A Long QT syndrome in South Africa: the results of comprehensive genetic screening |
title | Long QT syndrome in South Africa: the results of comprehensive genetic screening |
title_full | Long QT syndrome in South Africa: the results of comprehensive genetic screening |
title_fullStr | Long QT syndrome in South Africa: the results of comprehensive genetic screening |
title_full_unstemmed | Long QT syndrome in South Africa: the results of comprehensive genetic screening |
title_short | Long QT syndrome in South Africa: the results of comprehensive genetic screening |
title_sort | long qt syndrome in south africa: the results of comprehensive genetic screening |
topic | Cardiovascular Topics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772322/ https://www.ncbi.nlm.nih.gov/pubmed/24217263 http://dx.doi.org/10.5830/CVJA-2013-032 |
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