Open AccessMutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy
Author(s) -
Cui Hao,
Wang Jizheng,
Zhang Ce,
Wu Guixin,
Zhu Changsheng,
Tang Bing,
Zou Yubao,
Huang Xiaohong,
Hui Rutai,
Song Lei,
Wang Shuiyun
Publication year - 2018
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.488
Subject(s) - hypertrophic cardiomyopathy , medicine , mutation , sudden cardiac death , population , gastroenterology , gene mutation , sudden death , cardiology , gene , genetics , biology , environmental health
Background Filamin C ( FLNC ) mutation was reported as a cause of HCM, with a high probability of sudden cardiac death. However, the mutation profile of FLNC , and its relationship with phenotypic expression in HCM, remains to be elucidated. Methods In this study, FLNC gene was sequenced in 540 HCM patients and 307 healthy controls. Results We found that 39 (7.2%) patients carried FLNC mutations, with a similar frequency to that of controls (4.2%, p = 0.101). Pedigree analysis showed that mutations were not well segregated with HCM. The baseline characteristics between HCM patients, with and without mutations, were comparable. FLNC mutations did not increase the risk for either all‐cause mortality (HR 0.746, 95% CI 0.222–2.295, p = 0.575) or cardiac mortality (HR 0.615, 95% CI 0.153–1.947, p = 0.354) in HCM patients during a follow‐up of 4.7 ± 3.2 years. Moreover, there was no significant difference in survival free from sudden cardiac arrest (HR 0.721, 95% CI 0.128–3.667, p = 0.660) and heart failure (HR 0.757, 95% CI 0.318–1.642, p = 0.447). Conclusions FLNC mutations were common in both HCM patients and healthy population. The pathogenicity of FLNC mutations detected in HCM patients and its association with the clinical outcomes should be cautiously interpreted.