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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

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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