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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, Volume 10, Issue 12, Diagnostics, Vol 10, Iss 1061, p 1061 (2020)
- 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 &lt<br />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.
- Subjects :
- 0301 basic medicine
Proband
Clinical Biochemistry
Population
TPM1
macromolecular substances
030204 cardiovascular system & hematology
Biology
Article
rare genetic variants
TNNI3
03 medical and health sciences
0302 clinical medicine
medicine
cardiovascular diseases
education
Allele frequency
Genetics
lcsh:R5-920
education.field_of_study
Hypertrophic cardiomyopathy
medicine.disease
hypertrophic cardiomyopathy
030104 developmental biology
Cohort
cardiovascular system
MYH7
next-generation sequencing
lcsh:Medicine (General)
Subjects
Details
- ISSN :
- 20754418
- Volume :
- 10
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Diagnostics (Basel, Switzerland)
- Accession number :
- edsair.doi.dedup.....0286f8891be5e7dd146587d5b4815b08