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Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation by Mahshid Malakootian; Masoumeh Jalilian; Samira Kalayinia; Maryam Hosseini Moghadam; Mona Heidarali; Majid Haghjoo is a Medicine article available to read on EtoBox.

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## Abstract Atrial fibrillation (AF) is a morbid and heritable irregular cardiac rhythm that affects about 2%–3% of the population. Patients with early-onset AF have a strong genetic association with the disease; nonetheless, the exact underlying mechanisms need clarification. We herein present our evaluation of a 2-generation Iranian pedigree with early-onset AF. Whole-exome sequencing was applied to elucidate the genetic predisposition. Direct DNA sequencing was utilized to confirm and screen the variants in the proband and his available family members. The pathogenicity of the identified nucleotide variations was scrutinized via either segregation analysis in the family or in silico predictive software. The comprehensive variant analysis revealed a missense variant (c.G681C, p.E227D, rs1477078144) in the human α-dystrobrevin gene (DTNA), which is rare in genetic databases. Most in silico analyses have predicted this variant as a disease-causing variant, and the variant is co-segregated with the disease phenotype in the family. Previous studies have demonstrated the association between the DTNA gene and left ventricular noncompaction cardiomyopathy. Taken together, we provide the

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Author

Mahshid Malakootian; Masoumeh Jalilian; Samira Kalayinia; Maryam Hosseini Moghadam; Mona Heidarali; Majid Haghjoo

Publisher

Springer Science and Business Media LLC

Published

2022

Language

EN

Field

Medicine (Health Sciences)