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Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.
- Source :
-
Diagnostics (2075-4418) . Dec2020, Vol. 10 Issue 12, p1061-1061. 1p. - Publication Year :
- 2020
-
Abstract
- Background: The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). Methods: Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM. Results: We identified 95 variants with allele frequency < 0.1% in population databases. MYBPC3 and TTN had the largest number of rare variants (17 variants each). A definite genetic etiology was found in 6 probands (13.3%), while inconclusive results due to either known or novel variants were established in 31 cases (68.9%). All disease-causing variants were detected in sarcomeric genes (MYBPC3 and MYH7 with two cases each, and one case in TNNI3 and TPM1 respectively). Multiple variants were detected in 27 subjects (60%), but no proband carried more than one causal variant. Of note, almost half of the rare variants were novel. Conclusions: Herein we reported for the first time the rare variants identified in core and putative genes associated with HCM in a cohort of Romanian unrelated adult patients. The clinical significance of most detected variants is yet to be established, additional studies based on segregation analysis being required for definite classification. [ABSTRACT FROM AUTHOR]
- Subjects :
- *HYPERTROPHIC cardiomyopathy
*GENES
*ROMANIANS
*GENE frequency
Subjects
Details
- Language :
- English
- ISSN :
- 20754418
- Volume :
- 10
- Issue :
- 12
- Database :
- Academic Search Index
- Journal :
- Diagnostics (2075-4418)
- Publication Type :
- Academic Journal
- Accession number :
- 149925854
- Full Text :
- https://doi.org/10.3390/diagnostics10121061