title: Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
abstract: 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.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Jingmin
authors.initials: J
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Shang
authors.forename: Ye
authors.initials: Y
authors.lastname: Wu
authors.forename: Qiang
authors.initials: Q
authors.lastname: Gu
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.forename: Changhong
authors.initials: C
authors.lastname: Ding
authors.forename: Liwen
authors.initials: L
authors.lastname: Wang
authors.forename: Zhijie
authors.initials: Z
authors.lastname: Gao
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
authors.forename: Yuwu
authors.initials: Y
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000235:genetics; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense / Q000235:genetics
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins