ABSTRACT
Objective Through the screening of candidate pathogenic gene among family members of a family with familial hypertrophic cardiomyopathy in Yuxi, Yunnan Province, the study is designed to analyze the relationship between genotype and phenotype and to provide an important theoretical basis for the research of molecular genetic mechanism, early screening and early intervention of familial hypertrophic cardiomyopathy. Methods A detailed medical history was collected and physical examination and routine twelve lead electrocardiogram and cardiac ultrasonography examination were performed among the family members. The peripheral venous blood samples were collected for genetic testing. The genetic map was drawn and the genetic characteristics, genotype and clinical phenotype were analyzed. Results In this family, the dominant inheritance mode of hypertrophic cardiomyopathy is X- linked dominant inheritance. Candidate genes screening showed that a missense mutation was found in the GLA, ZFPM2, SCN5A genes and the translated amino acids were changed. Conclusion X- linked dominant inheritance is the main genetic mode of HCM in this family. GLA c.167G＞A (p. Cys56Tyr) heterozygous or hemizygous missense mutation may be the major pathogenic mutation in this family with non-obstructive hypertrophic cardiomyopathy. The clinical significance of ZFPM2 c.1332G＞ C (p.Lys444Asn) heterozygous missense mutation and SCN5A c.5216G＞A (p.Arg1739Gln) heterozygous missense mutation in this family is undetermined.