Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy.

This study highlights the importance of performing CNV analysis systematically in NGS genetic testing panels for HCM, and reinforce the relevance of the FHOD3 gene in the disease. This article is protected by copyright. All rights reserved. PMID: 32335906 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32335906?dopt=Abstract

Source: Clinical Genetics - April 25, 2020 Category: Genetics & Stem Cells Authors: Ochoa JP, Lopes LR, Pérez-Barbeito M, Cazón L, de la Torre-Carpente MM, Sonicheva-Paterson N, de Uña-Iglesias D, Quinn E, Kuzmina-Krutetskaya SS, Garrote JA, Elliott PM, Monserrat L Tags: Clin Genet Source Type: research