A novel mutation in a young patient with familial hypercholesterolemia underwent coronary artery bypass grafting

作者：Liang, Degang; Wang, Zanxin; Gao, Yuxia; Laurikka, Jari; Wei, Minxin^*

来源：International Journal of Clinical and Experimental Pathology, 2016, 9(2): 2571-2574.

• Familial hypercholesterolemia
• low density lipoprotein receptor
• new mutation
• exon 9-10GC

Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease. We reported a novel mutation exon 9-10GC in low density lipoprotein receptor (LDLR) at an 18-years-old patient with FH. The chief complaint of the patient is effort angina. Laboratory evaluation and coronary angiography were performed to evaluate her heart disease. The results showed stenosis in coronary arteries, as well as significant higher levels of total cholesterol (TC) and low density lipoprotein cholesterol. Gene sequencing and mutation analysis in LDLR and apolipoprotein B genes revealed a novel mutation exon 9-10GC of LDLR in the proband and her mother. She was scheduled for coronary artery bypass graft (CABG) surgery and discharged after successful operation. We reported a new gene mutation exon 9-10 G > A in LDLR in a Chinese family with FH. CABG was an effective method in treating her coronary artery disease.

• 出版日期2016
• 单位天津医科大学