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
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RESULTS

Clinical features In our study, the proband is a 32-year-old year old Chinese man with HCM. The proband was identified with a positive family history of cardiac disease. The proband’s father has manifested HCM and one of his uncles died at a young age with no detailed diagnosis. The patient’s complaints were episodes of palpitation that lasted a few minutes and exertional dyspnea. An electrocardiogram revealed LV hypertrophy. This was done using sokolowlyon criteria. We performed a 24-hour Holter tape for the proband and found a normal sinus rhythm with a mean heart rate 81 bpm. We also found ventricular and supraventricular premature beats with ventricular tachycardia. Transthoracic echocardiography (TTE) was done and found left ventricular hypertrophy (LVH) with interventricular septum of 37 mm of thickness. Left ventricular ejection fraction (LVEF) was higher (73%) without any abnormalities in the regional wall motion. In addition, we found reduced systolic motion of the mitral valve as well as obstruction in the outflow tract of the LV (Figure 3. A-C). The coronary artery angiogram was normal. Magnetic resonance imaging (MRI) confirmed the echocardiographic findings (Figure 4. A-D). Late gadolinium enhancement (LGE) sequences documented mid-myocardial patchy transmural late gadolinium enhancement (LGE) in the ventricular septum. Karyotype and chromosomal microarray analyses We found normal chromosomal structure in the proband (46, XY). Pathogenic copy number variations (CNVs) have not been identified. Whole exome sequencing identified a novel variant in MYBPC3 A no v e l he t e r o z y g o us de l e t i o n (c.3781_3785delGAGGC; p.Glu1261Thrfs*3) was identified in the exon 33 of the MYBPC3 gene in the proband (Figure 5). This variant leads to a frameshift followed by the formation of a truncated MYBPC3 protein. The proband’s father also carries this variant in a heterozygous state 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 in all the unaffected members of this family. This variant is not found in ethnically matched 100 normal control individuals. We have not found this variant in public databases (Human Gene Variant database, Online Mendelian Inheritance in Man, our in-house database of ~ 50,000 Chinese Han samples, ExAC, gnomAD, dbSNP, and 1000 Genome Database. Relative expression of MYBPC3 mRNA The expression level MYBPC3 mRNA in the proband and his father were reduced and were almost at half of the level in the proband’s mother (Figure 6). This result also indicated that the novel heterozygous deletion In silico Analysis The variant (c.3781_3785delGAGGC; p.Glu1261Thrfs*3) was predicted as a “disease causing” variant [26].

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