Zhang Jinru, Han Jingzhe, Wang Yaye, Wu Yue, Song Xueqin, Ji Guang
Department of Neurology, The Second Hospital of Hebei Medical University Shijiazhuang, Hebei, China.
Department of Neurology, Harrison International Peace Hospital Hengshui, Hebei, China.
Int J Clin Exp Pathol. 2020 Mar 1;13(3):559-562. eCollection 2020.
NLSDM is a rare metabolic myopathy caused by mutations in the patatin-like phosphatase domain protein 2 (PAPLA2) genes. In the present study, we describe the clinical and genetic findings in our Chinese patient with NLSDM. Sequence analysis of PNPLA2 gene was performed. Gene analysis for PNPLA2 revealed an identical homozygous mutation c.757+1G>T in our patient. The clinical symptoms of our patient are related to the type of mutation in the PNPLA2 gene and environmental effects.
中性脂质贮积病伴鱼鳞病样红皮病（NLSDM）是一种由帕他汀样磷脂酶结构域蛋白2（PAPLA2）基因突变引起的罕见代谢性肌病。在本研究中，我们描述了中国NLSDM患者的临床和基因学发现。对PNPLA2基因进行了序列分析。PNPLA2基因分析显示，我们的患者存在相同的纯合突变c.757+1G>T。我们患者的临床症状与PNPLA2基因的突变类型及环境影响有关。
