Abstract
Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (T; p.D4631V) in a CPVT patient and a novel rare variant (c5428G>C; p.V1810L) of uncertain significance in a patient with VT of idiopathic origin which we suggest represents a low-penetrance or susceptibility variant. In addition we identified a known variant previously associated with arrhythmogenic right ventricular dysplasia type2 (ARVD2). Combining sets of prediction scores and reference databases appeared fundamental to predict the pathogenic potential of novel and rare missense variants in populations where genotype data are rare.
| Original language | English |
|---|---|
| Article number | e101059 |
| Journal | PLoS One |
| Volume | 9 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 30 2014 |
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ASJC Scopus subject areas
- Agricultural and Biological Sciences(all)
- Biochemistry, Genetics and Molecular Biology(all)
- Medicine(all)
Cite this
RYR2 sequencing reveals novel missense mutations in a kazakh idiopathic ventricular tachycardia study cohort. / Akilzhanova, Ainur; Guelly, Christian; Nuralinov, Omirbek; Nurkina, Zhannur; Nazhat, Dinara; Smagulov, Shalkhar; Tursunbekov, Azat; Alzhanova, Anar; Rashbayeva, Gulzhaina; Abdrakhmanov, Ayan; Dosmagambet, Sholpan; Trajanoski, Slave; Zhumadilov, Zhaxybay; Sharman, Almaz; Bekbosynova, Mahabbat.
In: PLoS One, Vol. 9, No. 6, e101059, 30.06.2014.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - RYR2 sequencing reveals novel missense mutations in a kazakh idiopathic ventricular tachycardia study cohort
AU - Akilzhanova, Ainur
AU - Guelly, Christian
AU - Nuralinov, Omirbek
AU - Nurkina, Zhannur
AU - Nazhat, Dinara
AU - Smagulov, Shalkhar
AU - Tursunbekov, Azat
AU - Alzhanova, Anar
AU - Rashbayeva, Gulzhaina
AU - Abdrakhmanov, Ayan
AU - Dosmagambet, Sholpan
AU - Trajanoski, Slave
AU - Zhumadilov, Zhaxybay
AU - Sharman, Almaz
AU - Bekbosynova, Mahabbat
PY - 2014/6/30
Y1 - 2014/6/30
N2 - Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (T; p.D4631V) in a CPVT patient and a novel rare variant (c5428G>C; p.V1810L) of uncertain significance in a patient with VT of idiopathic origin which we suggest represents a low-penetrance or susceptibility variant. In addition we identified a known variant previously associated with arrhythmogenic right ventricular dysplasia type2 (ARVD2). Combining sets of prediction scores and reference databases appeared fundamental to predict the pathogenic potential of novel and rare missense variants in populations where genotype data are rare.
AB - Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (T; p.D4631V) in a CPVT patient and a novel rare variant (c5428G>C; p.V1810L) of uncertain significance in a patient with VT of idiopathic origin which we suggest represents a low-penetrance or susceptibility variant. In addition we identified a known variant previously associated with arrhythmogenic right ventricular dysplasia type2 (ARVD2). Combining sets of prediction scores and reference databases appeared fundamental to predict the pathogenic potential of novel and rare missense variants in populations where genotype data are rare.
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UR - http://www.scopus.com/inward/citedby.url?scp=84903625411&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0101059
DO - 10.1371/journal.pone.0101059
M3 - Article
C2 - 24978818
AN - SCOPUS:84903625411
VL - 9
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 6
M1 - e101059
ER -