The pathogenic gene screening in a cardiomyopathy pedigree of Yunnan province

Objective In this study, the sreening of candidate pathogenic gene is done among family members of an dilated cardiomyopathy(DCM)and hypertrophic cardiomyopathy (HCM) coexistence, and find the relationship between the genotype and the phenotype. Methods The inheritance atlas was drawn, analysis of genetic characteristics and clinical phenotype.Peripheral venous blood samples of proband and family members were candidated gene exon high-throughput sequencing sub target capture, make the result compares with related database, ultimately screening the target area of the exon and mutations of candidate genes and then using bidirectional sequencing of Sanger to sequence other family members and the health group which were matching with gender and age to testify whether there is the above mutations. Results In this family, the proband and his father carry three missense mutations, about TTNc.604 A>G(p.Lys202Glu)、TAZ c. 580A>G(p.Ile194Val)and MYH7c.730 T>C(p.Phe244Leu). The heart function of proband was failure, and accompanied malignant arrhythmia.But his father has no obvious clinical symptoms.In this family, the same genetic mutation of disease causing gene lead to different clinical phenotype, but different genetic mutation of disease causing gene lead to the same clinical phenotype.None of the mutations found in this family was found in the health group. Conclusion The patient of this family carries the genetic mutation of MYH7, TTN and TAZ.The patient of this family carries the composite mutation of MYH7+ /TTN+ heterozygous missense mutation and TAZ+ /TTN+ heterozygous missense mutation may be show the performance of the genetic characteristics of early onset, severe phenotype. Key words: Cardiomyopathies; Mutation; Phenotype