Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
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中国患有皮质下囊肿（MLC）的巨脑白质脑病患者中新型 MLC1 突变的鉴定。
DOI：
10.1038/jhg.2010.146
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发表时间：
2011
影响因子：
3.5
通讯作者：
Jiang,Yuwu
中科院分区：
文献类型：
--
作者：
Wang,Jingmin;Shang,Jing;Wu,Ye;Gu,Qiang;Xiong,Hui;Ding,Changhong;Wang,Liwen;Gao,Zhijie;Wu,Xiru;Jiang,Yuwu
巨脑白质脑病伴皮质下囊肿（MLC）是由MLC 1基因突变引起的常染色体隐性遗传性疾病。以前发表的大多数研究都是在中国人以外的少数民族人群中进行的。本研究首次对13例中国患者进行临床特征分析和MLC 1突变筛查。在这些患者中共鉴定出10种MLC 1突变，包括5种新的错义突变（c. 65G> A，p. R22Q; c. 95C> T，p. A32V; c. 218G> A，p. G73E; c. 823G> A，p. A275T; c. 832 T> C，p. Y278 H），一个新的剪接突变（c. 772-1G> C在IVS 9 -1），一个新的小缺失（c. 907_930del，p. V303_L310del），一个已知的无义突变（c. 593 delCTCA，p. Y198 X）和两个已知的错义突变（c. 206C> T，p. S69L; c. 353C> T，p. T118M）。突变C IVS 9 -1中772-1G> C占本研究中基因确诊患者总数的27.3%（3/11），因此推测是本研究组中的热点突变。结果表明，中国MLC患者存在独特的MLC 1突变谱。应进行系统研究，以评估不同人群中的突变谱。
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mutation screening were performed in 13 Chinese patients for the first time. A total of 10 MLC1 mutations were identified in these patients, including five novel missense mutations (c. 65G> A, p. R22Q; c. 95C> T, p. A32V; c. 218G> A, p. G73E; c. 823G> A, p. A275T; c. 832T> C, p. Y278H), one novel splicing mutation (c. 772-1G> C in IVS9-1), one novel small deletion (c. 907_930del, p. V303_L310del), one known nonsense mutation (c. 593delCTCA, p. Y198X) and two known missense mutations (c. 206C> T, p. S69L; c. 353C> T, p. T118M). Mutation c. 772-1G> C in IVS9-1, accounting for 27.3%(3/11) of the total number of genetically confirmed patients found in this study, is thus a putative hot-spot mutation in the present study group. The existence of a unique MLC1 mutation spectrum in Chinese MLC patients was shown. A systemic study to assess the mutation spectra in different populations should be undertaken.