G2Cdb::Human Disease report

Disease id
D00000196
Name
Leukodystrophy
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001313 GRM5
glutamate receptor, metabotropic 5
Y (14722582) No mutation found (N) N

References

  • Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

    Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D and Arveiler B

    Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, F-33076, Bordeaux, France. cyril.goizet@chu-bordeaux.fr

    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.

    European journal of human genetics : EJHG 2004;12;3;245-50

Literature (1)

Pubmed - human_disease

  • Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

    Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D and Arveiler B

    Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, F-33076, Bordeaux, France. cyril.goizet@chu-bordeaux.fr

    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.

    European journal of human genetics : EJHG 2004;12;3;245-50

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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