Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene

Christoph Kamm; Joanne Leung; Soni Joseph; William B. Dobyns; Alison Brashear; Xandra O. Breakefield; Laurie J. Ozelius

doi:10.1002/mds.20095

Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene

Christoph Kamm, Joanne Leung, Soni Joseph, William B. Dobyns, Alison Brashear, Xandra O. Breakefield, Laurie J. Ozelius

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

By examining two previously described families with rapid onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.

Original language	English (US)
Pages (from-to)	845-847
Number of pages	3
Journal	Movement Disorders
Volume	19
Issue number	7
DOIs	https://doi.org/10.1002/mds.20095
State	Published - Jul 2004
Externally published	Yes

Keywords

DYT12
Kainate receptor
Rapid-onset dystonia-parkinsonism

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abstract = "By examining two previously described families with rapid onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.",

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AU - Joseph, Soni

AU - Dobyns, William B.

AU - Brashear, Alison

AU - Breakefield, Xandra O.

AU - Ozelius, Laurie J.

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AB - By examining two previously described families with rapid onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.

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KW - Kainate receptor

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Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene

Abstract

Keywords

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