Genetic analysis of three patients with an 18p- syndrome and dystonia

Authors
Klein, C Page, CE LeWitt, P Gordon, MF de Leon, D Awaad, Y Breakefield, XO Brin, MF Ozelius, LJ
Citation
C. Klein et al., Genetic analysis of three patients with an 18p- syndrome and dystonia, NEUROLOGY, 52(3), 1999, pp. 649-651
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
52
Issue
3
Year of publication
1999
Pages
649 - 651
Database
ISI
SICI code
0028-3878(199902)52:3<649:GAOTPW>2.0.ZU;2-5
Abstract
Some patients with an 18p- syndrome show dystonia, and a focal dystonia gen e has been mapped to chromosome 18p. The authors evaluated the extent of th e deletion in three patients with an 18p- syndrome and dystonia using 14 DN A markers on 18p. A common deleted area, covering the DYT7 locus, places th e putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM) . Dystonia in these patients may be caused by haploinsufficiency of the DYT 7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies.