The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei

Dilated cardiomyopathy arises from mutations in many genes. TTN, the gene encoding the sarcomere protein titin, has been insufficiently analyzed for cardiomyopathy mutations because of its enormous size. In this study, we report a Chinese family with two members affected by TTN. Blood samples were collected from all family members. Genomic DNA was isolated from blood, and all coding exons and adjacent intronic sequences of the TTN gene were examined for mutation analysis using polymerase chain reaction (PCR)-based sequencing. The proband (III3) and his sister (III2) carry a TTN c.100126A > G (p.Thr33376Ala) missense mutation. The proband currently exhibits decreased cardiac function accompanied by malignant arrhythmia, and his sister has no obvious clinical symptoms and no abnormal ultrasound findings. The study found that there is a missense mutation in the TTN gene, c.100126A > G (p.Thr33376Ala), in a family whose members suffer from familial dilated cardiomyopathy in Hubei province. TTN is closely related to dilated cardiomyopathy and is an important causative gene of familial dilated cardiomyopathy.