Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.
Eur J Hum Genet. 2004-01-14; 12(3): 245-250
DOI: 10.1038/sj.ejhg.5201128
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1. Eur J Hum Genet. 2004 Mar;12(3):245-50.
Molecular characterization of an 11q14.3 microdeletion associated with
leukodystrophy.
Goizet C(1), Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D, Arveiler B.
Author information:
(1)Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor
Segalen Bordeaux 2, F-33076, Bordeaux, France.
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.
DOI: 10.1038/sj.ejhg.5201128
PMID: 14722582 [Indexed for MEDLINE]