What is it about?
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.
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Why is it important?
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
Perspectives
We think this new result should be considered for future genetic counseling of families affected by this type of cardiomyopathy.
PhD Luis Alberto Mendez-Rosado
CNGM
Read the Original
This page is a summary of: Novel <i>FLNC</i> Gene Variant Associated with Hypertrophic Cardiomyopathy, OBM Genetics, October 2024, Open BioMedical Publishing Corporation,
DOI: 10.21926/obm.genet.2404266.
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