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• W4282590147 abstract "Abstract Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much more severe phenotype with premature death, bi-allelic variants in LDB3 have not yet been reported. Here we identify biallelic loss-of-function variants in five unrelated cardiomyopathy families by next generation sequencing. In the first family we identified compound heterozygous LOF variants in LDB3 in a fetus with bilateral talipes and mild left cardiac ventricular enlargement. Ultra-structural examination revealed highly irregular Z-disc formation, and RNA analysis demonstrated little/no expression of LDB3 protein with a functional C-terminal LIM domain in muscle tissue from the affected fetus. In a second family a homozygous LDB3 nonsense variant was identified in a young girl with severe early onset dilated cardiomyopathy with left ventricular non compaction; the same homozygous nonsense variant was identified in a third unrelated female infant with dilated cardiomyopathy. We further identified homozygous LDB3 frameshift variants in two unrelated probands diagnosed with cardiomegaly and severely reduced left ventricular ejection fraction. Our findings demonstrate that recessive LDB3 variants can lead to an early-onset severe human phenotype of cardiomyopathy and myopathy, reminiscent of the knockout mouse phenotype, and supporting a loss of function mechanism." @default.
• W4282590147 created "2022-06-14" @default.
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• W4282590147 date "2022-06-13" @default.
• W4282590147 modified "2023-09-23" @default.
• W4282590147 title "Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy" @default.
• W4282590147 doi "https://doi.org/10.21203/rs.3.rs-1699263/v1" @default.
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