PNPLA2基因中的一种新型突变导致伴有肌病的中性脂质贮积病。
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.
作者信息
Ash Daniel B, Papadimitriou Dimitra, Hays Arthur P, Dimauro Salvatore, Hirano Michio
机构信息
Department ofNeurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, 630W168th St,P&S 4-423, New York, NY 10032, USA.
出版信息
Arch Neurol. 2012 Sep;69(9):1190-2. doi: 10.1001/archneurol.2011.2600.
BACKGROUND
Mutations in PNPLA2, a gene encoding adipose triglyceride lipase, lead to neutral lipid storage disease with myopathy.
OBJECTIVE
To report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2.
DESIGN
Case report.
SETTING
University hospital.
PATIENT
A 65-year-old man with progressive muscle weakness and high serum creatine kinase levels.
INTERVENTION
Direct sequencing of the PNPLA2 gene.
RESULTS
Identification of a novel homozygous mutation in the patient's PNPLA2 gene confirmed the suspected diagnosis of neutral lipid storage disease with myopathy.
CONCLUSION
Screening of the PNPLA2 gene should be considered for patients presenting with high levels of creatine kinase, progressive muscle weakness, and systemic lipid accumulation. The presence of Jordans anomaly can be a strong diagnostic clue.
背景
PNPLA2基因（一种编码脂肪甘油三酯脂肪酶的基因）发生突变会导致伴有肌病的中性脂质贮积病。
目的
报告1例因PNPLA2基因新突变导致的伴有肌病的中性脂质贮积病的临床和分子特征。
设计
病例报告。
单位
大学医院。
患者
一名65岁男性，有进行性肌无力和高血清肌酸激酶水平。
干预措施
对PNPLA2基因进行直接测序。
结果
在患者的PNPLA2基因中鉴定出一种新的纯合突变，证实了疑似伴有肌病的中性脂质贮积病的诊断。
结论
对于出现肌酸激酶水平升高、进行性肌无力和全身性脂质蓄积的患者，应考虑对PNPLA2基因进行筛查。乔丹氏异常的存在可能是一个有力诊断线索。
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