Key result
A novel heterozygous missense variant in the FLNC gene (c.6305C > T, p.Pro2102Leu) located in the ROD2 domain was identified as likely pathogenic in a patient with hypertrophic cardiomyopathy.
Case Report (n=1)
No
A novel missense variant in the ROD2 domain of the FLNC gene was identified in a patient with hypertrophic cardiomyopathy, supporting the relationship between FLNC variants and the disease.
Supports FLNC screening in HCM panels; leaves open validation of pathogenicity and outcomes in larger cohorts.
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, affecting approximately 1 in 500 people. It is the most common genetic cardiomyopathy inherited as a Mendelian trait in approximately 50% of patients, mainly due to pathogenic variants in genes encoding sarcomeric proteins. Mutations in the sarcomeric protein filamin C (FLNC) gene, with a cytogenetic localization on 7q32.1, have been linked to hypertrophic cardiomyopathy, as they have been determined to increase the risk of ventricular arrhythmia and sudden death. We present the case of a patient with HCM recognized by magnetic resonance imaging and echocardiography with a family history of cardiopathies. The molecular study in this patient was performed by next-generation sequencing on the Illumina MiniSeq instrument, comparing the results with international databases. In genetic studies, a novel mutation in the protein FLNC was detected. It is heterozygous, missence type. It is a variant where Cytosine is changed by timina at position 6305 of the FLNC gene. This produces the change of the amino acid proline by leucine at position 2102 of the Filamin C protein. The rare variant is located in Ig-like domain 19 within the ROD2 domain. This variant report suggests that there may indeed be a direct relationship between FLNC variants, mainly the ROD2 domain, and HCM. We think this new result should be considered for future genetic counseling of families affected by this type of cardiomyopathy.
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Cedeño-Escudero. et al. (2024) conducted a case report in Hypertrophic cardiomyopathy (n=1). FLNC gene variant (c.6305C > T p.(Pro2102Leu)) was evaluated on Detection of pathogenic genetic variants. A novel heterozygous missense variant in the FLNC gene (c.6305C > T, p.Pro2102Leu) located in the ROD2 domain was identified as likely pathogenic in a patient with hypertrophic cardiomyopathy.
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