Biallelic truncating TTN variants in M‐band encoding exons cause a fetal lethal titinopathy
Ming‐wei Li,
Fan Li,
Zhen‐xing Cheng
et al.
Abstract:To report two novel TTN variants associated with fetal recessive titinopathy, thereby broadening the range of TTN variants that can lead to titinopathy. Clinical information on the fetus and parents was gathered, and genomic DNAs were extracted from the fetal tissue and family members' peripheral blood samples. Exome sequencing on fetal DNA was performed and following bioinformatics analysis, the suspected pathogenic variants were confirmed through Sanger sequencing. Prenatal ultrasound performed at 29 weeks o… Show more
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