PCR primers for TNNI3 used in this study were 5'-ATAAGAAGAGAAGGAAGGA GAC-3' and 5'-TCAATAACACAGCCAAGAGT-3', producing a PCR product with the length of 608 bp.
For patients with TNNI3 -192 site mutation, oral administration of catechin was prescribed according to Zhang L et al.
Of note, all the five TNNI3 mutations were de novo germline mutation, clarifying that their parents are healthy.
In this study, WES was performed and the results showed variants of TNNI3 in the patients.
To confirm the possibility that TNNI3 variants are the likely the etiology of RCM, structural investigation was performed.