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Whole-Exome Sequencing Reveals a Novel Mutation of Flna Gene in an Iranian Family With Nonsyndromic Tetralogy of Fallot Publisher Pubmed



Kalayinia S1 ; Maleki M1 ; Mahdavi M1 ; Mahdieh N1, 2
Authors
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Authors Affiliations
  1. 1. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Lab Medicine Published:2021


Abstract

Objective: Tetralogy of Fallot (TOF) is one of the most common congenital abnormalities that need early intervention. Here, for the first time, we report a nonsyndromic form of TOF caused by a novel variant in the FLNA gene in 2 siblings of an Iranian family. Methods: The family underwent a complete workup, including karyotyping, sequencing of 6 common genes in congenital heart diseases (GATA4, NKX2-5, ZIC3, FOXH1, NODAL, and GJA1), array comparative genomic hybridization, multiplex ligation-dependent probe amplification, and whole-exome sequencing. Segregation and in silico analysis were also conducted for the identified variant. Results: A variant, c.3415C>T, in the FLNA gene was found in both affected brothers in this family; this variant was heterozygous in their mother. Bioinformatics tools predicted the variant as a pathogenic one. Conclusion: Many allelic disorders have been reported for FLNA mutations. Mutations in this gene may cause a nonsyndromic congenital form of TOF. © 2021 American Society for Clinical Pathology,. All rights reserved.
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