Balkan Journal of Medical Genetics

MOLECULAR CHARACTERIZATION OF MICRORNA INTERFERENCE AND ARISTOLOCHIC ACID INTOXICATION FOUND IN UPPER TRACT UROTHELIAL CARCINOMA IN PATIENTS WITH BALKAN ENDEMIC NEPHROPATHY: A SYSTEMATIC REVIEW OF THE CURRENT LITERATURE
Bašić D1*, Ignjatović I1, Janković Veličković Lj2, Veljković A3
*Corresponding Author: *Corresponding Authors: Dragoslav Bašić, Urology Clinic, University Clinical Center Niš, Faculty of Medicine, University of Niš, Niš, Serbia, Puškinova 2, 18000 Niš, Serbia, Email: basicdr@gmail.com
page: 8

INTRODUCTION

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder involving the heart muscle [1]. HCM is manifested with left ventricular hypertrophy (LVH) [2]. HCM is a common cardiac disorder with a world-wide incidence of 1:500 [1, 2]. Familial hypertrophic cardiomyopathy (FHC) is a rare type of HCM, manifested with myocardial hypertrophy which mostly involves the interventricular septum with an autosomal dominant mode of inheritance [3, 4]. FHC is usually presented with extreme genotypic and phenotypic heterogeneity [5]. Mutations in genes encoding sarcomere proteins causes FHC [6]. Up to the date of writing, 10 candidate genes have been reported for causing FHC. In addition, more than 200 variants of these 10 candidate genes have been reported to be associated with FHC [6]. Moreover, mutations in mitochondrial DNA and PRKAG2 have also been reported to cause hypertrophic cardiomyopathy [7, 8]. Germline mutations in MYBPC3 cause 20% of all the FHC cases [6, 9]. The MYBPC3 gene encodes the Myosin-binding protein C with 1274 amino acids. Mutations in MYBPC3 is very common in HCM patients but the gene-disease association is not yet well investigated [10]. MYBPC3 associated HCM is usually presented with extreme phenotypic heterogeneity [10-13]. Previous studies reported that mutations in MYBPC3 usually causes mild, moderate, or severe forms of HCM with late onset [10-17]. However, HCM patients with mutations in a single gene showed late onset of disease with mild left ventricular (LV) hypertrophy and reduced chances of heart failure and cardiac death [18-22]. Until now, approximately 150 mutations in the MYBPC3 gene have been reported to be associated with HCM [21, 22]. Furthermore, more than 70% of the MYBPC3 muta-tions were frameshift mutations, resulting in formation of a C-terminal truncated protein [6, 23]. In this study, we investigated a Chinese man with familial HCM. No chromosomal abnormalities were found in the proband. A novel heterozygous deletion (c.3781_3785delGAGGC) in exon 33 of the MYBPC3 gene in the proband was identified by whole exome sequencing. This deletion causes frameshift (p.Glu1261Thrfs*3), followed by the formation of a truncated MYBPC3 protein with 1263 amino acids. The proband’s father carries this heterozygous deletion while the proband’s mother does not harbor this variant. Segregation analysis showed that this deletion is present among all the affected members as well as absent among all the unaffected members of this family and in the 100 ethnically matched healthy individuals. Our present study reported a novel mutation in the MYBPC3 gene associated with HCM and the technical importance of whole exome sequencing for identifying the mutation underlying phenotypically highly heterogenous familial hypertrophic cardiomyopathy.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact