Genetic Screening of Familial Hypertrophic Cardiomyopathy in Yuxi Yunnan

Qiao Qian; Hao Ying Lu; Li Yan Ping; Liu Hai Ying; Li Ting Ting; Qian Bao Tang; Liu Fang Yan

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Qiao Qian , Hao Ying Lu , Li Yan Ping , Liu Hai Ying , Li Ting Ting , Qian Bao Tang , Liu Fang Yan . Genetic Screening of Familial Hypertrophic Cardiomyopathy in Yuxi Yunnan[J]. Journal of Kunming Medical University, 2018, 39(02): 34-38.

Citation:

Qiao Qian , Hao Ying Lu , Li Yan Ping , Liu Hai Ying , Li Ting Ting , Qian Bao Tang , Liu Fang Yan . Genetic Screening of Familial Hypertrophic Cardiomyopathy in Yuxi Yunnan[J]. Journal of Kunming Medical University, 2018, 39(02): 34-38.

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Genetic Screening of Familial Hypertrophic Cardiomyopathy in Yuxi Yunnan

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基金：云南省自然科学基金资助项目 (2013FZ258);

Received Date: 2017-10-19

Abstract

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.Me thods 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. Re s ults 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, SCN5 A genes and the translated amino acids were changed.Conclus ion X-linked dominant inheritance is the main genetic mode of HCM in this family. GLA c.167 G> A (p.Cys56 Tyr) 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.1332 G> C (p.Lys444 Asn) heterozygous missense mutation and SCN5 A c.5216 G> A (p.Arg1739 Gln) heterozygous missense mutation in this family is undetermined.
- Hypertrophic cardiomyopathy,
- Gene mutation,
- Phenotype

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