伴有严重肌病的中性脂质贮积病中脂肪甘油三酯脂肪酶（PNPLA2）的帕他丁结构域的新型重复突变。
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
作者信息
Akiyama Masashi, Sakai Kaori, Ogawa Masaya, McMillan James R, Sawamura Daisuke, Shimizu Hiroshi
机构信息
Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Sapporo 060-8638, Japan.
出版信息
Muscle Nerve. 2007 Dec;36(6):856-9. doi: 10.1002/mus.20869.
Recently, mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) were reported to underlie a neutral lipid storage disease (NLSD) subgroup characterized by mild myopathy and the absence of ichthyosis. In the present study a novel homozygous PNPLA2 mutation c.475_478dupCTCC (p.Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy. The present results suggest that a premature truncation mutation in the patatin domain causes NLSD with severe myopathy.
最近，据报道，编码脂肪甘油三酯脂肪酶（ATGL）的PNPLA2基因突变是一种中性脂质贮积病（NLSD）亚组的病因，该亚组的特征为轻度肌病且无鱼鳞病。在本研究中，在一名患有NLSD和严重肌病的女性中检测到patatin结构域（ATGL活性位点）存在一种新的纯合PNPLA2突变c.475_478dupCTCC（p.Gln160ProfsX19）。目前的结果表明，patatin结构域中的过早截断突变会导致伴有严重肌病的NLSD。
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