| 赵新涛 陈伊 冯新星 宋莹 王怡璐 邹玉宝 王继征 惠汝太 邵一兵
宋雷 王旭.Fabry病在中国汉族肥厚型心肌病人群的患病率[J].,2014,14(11):2006-2010 |
| Fabry病在中国汉族肥厚型心肌病人群的患病率 |
| Prevalence of Fabry Disease in Chinese Patients with HypertrophicCardiomyopathy |
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| DOI： |
| 中文关键词: 肥厚型心肌病 Fabry病 患病率 突变 |
| 英文关键词: Hypertrophic Cardiomyopathy Fabry Disease Prevalence Mutation |
| 基金项目:国家自然科学基金项目（30971233）；科技部973项目（2010CB732601） |
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| 中文摘要: |
| 目的：研究中国汉族肥厚型心肌病人群中琢-Galactosidase A 突变的患病率及其临床表现。方法：对439 名肥厚型心肌病患者
及156 名健康对照GLA 基因进行全外显子测序，及基因型及临床表型进行关联分析。结果：确定了2 个致病性突变，包括1 个错
义突变E66Q 和1 个剪接位点的突变c.547+1G>C。2 个突变在156 名健康人群未发现，在1000人基因组计划中未报道。确定中
国汉族肥厚型心肌病人群中琢-Galactosidase A 突变0.45%的患病率。结论：Fabry 病在中国汉族肥厚型心肌病人群中
琢-Galactosidase A 突变的患病率较低。基因检测有助于Fabry病与肥厚型心肌病的鉴别诊断。 |
| 英文摘要: |
| Objective: To determine the prevalence and clinical manifestations of α-galactosidaseA (GLA）mutations in chinese
patients with hypertrophic cardiomyopathy (HCM).Methods:GLA gene was sequenced in 439 patients with HCMand 156 healthy controls.
Genotype and phenotype correlation was analyzed in patients with GLA mutations. Results:A total of 2 pathogenic mutations in
GLA gene, including 1 splicing (c.547+1G>C) and 1 missense (E66Q), was identified in 2 (0.45%) of 439 patients with HCM. All these
mutations were lack in 156 healthy controls and not reported in either 1000 Genomes or Exome Sequencing Project. Bioinformatics analysis
showed these mutations had damaging effect on GLA protein or destroyed the existing splicing site. E66Q were known mutations,
whereas c.547+1G>C were novel. No mutation in sarcomere genes was identified in the 2 patients with GLA mutations, indicating these
mutations of GLA were independent causes of cardiac hypertrophy. One neutral rare variant (V256A) was also detected in 1 female patient,
who also carried a R671C mutation in MYH7. Various clinical manifestations were expressed in patients with GLA mutations, including,
dyspnea in 1 patients, chest pain in 2 patients. The maximum left ventricle wall thickness was 15mm and 25mm. Resting obstruction
of left ventricular outflow tract were observed in 1 patiets. Thus, the clinical manifestations of patients with GLA mutation were
not distinct fromthe typical HCM. Conclusion:The prevalence of fabry disease in Chinese patients with HCMwas 0.45%. Genetic testing
is helpful in differentiation of the two diseases. |
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