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.
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Acknowledgements
We thank the patients and their parents for their support and cooperation. This work was supported by the National Key Research Project ‘11-5’ (No. 2006BAI05A07), ‘973’ Project of the Science and Technology Ministry of China (No. 2007CB5119004), the National Natural Science Foundation of China (30973227), the International Collaborative Genetic Research Training Grant (NIH/FIC, No. D43 TW06176)) and the Peking University First Hospital Returned Overseas Doctor Research Foundation.
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Wang, J., Shang, J., Wu, Y. et al. Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). J Hum Genet 56, 138–142 (2011). https://doi.org/10.1038/jhg.2010.146
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DOI: https://doi.org/10.1038/jhg.2010.146
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