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Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.

Authors
  • Micheu, Miruna Mihaela1
  • Popa-Fotea, Nicoleta-Monica1, 2
  • Oprescu, Nicoleta1
  • Bogdan, Stefan1, 2
  • Dan, Monica1
  • Deaconu, Alexandru1, 2
  • Dorobantu, Lucian1, 3
  • Gheorghe-Fronea, Oana1, 2
  • Greavu, Maria3
  • Iorgulescu, Corneliu1
  • Scafa-Udriste, Alexandru1, 2
  • Ticulescu, Razvan3
  • Vatasescu, Radu Gabriel1, 2
  • Dorobanțu, Maria1, 2
  • 1 Department of Cardiology, Clinical Emergency Hospital of Bucharest, Calea Floreasca 8, 014461 Bucharest, Romania. , (Oman)
  • 2 Department 4-Cardiothoracic Pathology, University of Medicine and Pharmacy Carol Davila, Eroii Sanitari Bvd. 8, 050474 Bucharest, Romania. , (Oman)
  • 3 Monza Hospital, Tony Bulandra Street, No. 27, 021967 Bucharest, Romania. , (Oman)
Type
Published Article
Journal
Diagnostics
Publisher
MDPI AG
Publication Date
Dec 07, 2020
Volume
10
Issue
12
Identifiers
DOI: 10.3390/diagnostics10121061
PMID: 33297573
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM. 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. 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.

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