Abstract
Leukodystrophies represent a heterogeneous group of rare hereditary diseases affecting the central nervous system. The underlying molecular defect remains unknown in almost 50% of cases. We previously assigned a new locus for leukodystrophy of unknown cause to chromosome 11q14.3 by identifying a de novo microdeletion in a sporadic case. We now report the precise molecular characterization of this microdeletion. Physical mapping of the region of interest allowed us to identify and analyze candidate gene(s) possibly implicated in leukodystrophy.
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Acknowledgements
This work was supported by a grant of ELA (European Leukodystrophy Association) and ARMA (Association pour la Recherche Médicale en Aquitaine).
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Electronic databasesUDB: http://bioinformatics.weizmann.ac.il/udb;GDB: www.gdb.org; Advanced BLAST: http://www.ncbi.nlm.nih.gov/BLAST;BLAST 2 Sequences: http://www.ncbi.nlm.nih.gov/gorf/bl2.html;NCBI Map Viewer: http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi;RepeatMasker server: http://woody.embl-heidelberg.de/repeatmask/
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Goizet, C., Coupry, I., Rooryck, C. et al. Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy. Eur J Hum Genet 12, 245–250 (2004). https://doi.org/10.1038/sj.ejhg.5201128
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DOI: https://doi.org/10.1038/sj.ejhg.5201128
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