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Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Lilia KraouaAssaad LouatiSarra Ben AhmedNesrine AbidaMonia KhemiriKhaled MenifRidha MradStephane ZaffranHager Jaouadi
Published in: Molecular genetics & genomic medicine (2024)
Genetic counseling was provided for the family and a prenatal diagnosis of choronic villus was proposed in the absence of pre-implantation genetic diagnosis possibilities. Our study expands the case series of early-onset DCM patients with a protein-truncating variant in the TNNI3 gene by reporting three affected infant siblings.
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