Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy

Here we reported a SYNC nonsense variant in a Chinese family with hypertrophic cardiomyopathy(HCM)and firstly linked syncoilin(SYNC)to HCM.HCM is an inherited cardiovascular disease,affecting approximately 1:500 people,that is characterized by thickening of left ventricle(LV),especially the interventricular septum(IVS),and diastolic ventricular failure.1 To date,more than 15 genes of two groups underlying HCM have been identified.1 About 35%e60%HCM patients present autosomal dominant inheritance and carry a pathogenic variant in sarcomeric protein genes,such as b-myosin heavy chain(MYH7),myosin binding protein C(MYBPC3),and Troponin T(TNNT2).1 In addition,non-sarcomeric genetic causes of disease have also been observed in about 25%HCM patients,mainly related to metabolic storage diseases,mitochondrial cardiomyopathies,inborn errors of metabolism etc.