Supplementary Material for: Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review

Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutation (c.194delC) in the PNPLA2 gene that resulted in frameshift. The patient suffered from normal-tension glaucoma and pulmonary cysts, symptoms that are relatively common in the elderly but were not previously reported for this disease. Our summary confirmed that Jordan’s anomaly, polymorphonuclear leukocytes with lipid accumulation, was the most consistent finding of this disease. Because this disease is potentially treatable, our results may help rapid and correct diagnosis.

PNPLA2基因的突变可引发伴肌病的中性脂质贮积病（neutral lipid storage disease with myopathy, NLSDM）或甘油三酯沉积性心肌血管病（triglyceride deposit cardiomyovasculopathy）。本研究报道1例确诊为NLSDM的53岁男性患者的详细病例研究。本研究依照已报道的方法对该患者的PNPLA2基因进行了检测分析，并汇总了56例患者的临床、实验室及遗传学信息，其中包括本研究纳入的该例患者，以及另外55例已报道的携带PNPLA2基因纯合或复合杂合突变的患者。本研究在该患者的PNPLA2基因中发现了1个可导致移码突变的新型纯合突变（c.194delC）。该患者同时患有正常眼压性青光眼（normal-tension glaucoma）与肺囊肿（pulmonary cysts），此类症状在老年人群中相对常见，但此前尚未见此类疾病的相关报道。本研究汇总分析证实，约丹异常（Jordan’s anomaly，即脂质蓄积的中性粒细胞）是该疾病最为一致的检测特征。鉴于该疾病具备潜在治疗价值，本研究结果可为该疾病的快速精准诊断提供参考依据。