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Article

Whole-Exome Sequencing Reveals a Novel Mutation of FLNA Gene in an Iranian Family with Nonsyndromic Tetralogy of Fallot.

Laboratory medicine - 2 Nov 2021

Kalayinia Samira, Maleki Majid, Mahdavi Mohammad, Mahdieh Nejat

Abstract excerpt

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,...

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Identifiers

PMID: 33942857
DOI: 10.1093/labmed/lmab018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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