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Unbalanced whole arm translocation resulting in loss of 18p in dystonia
Author(s) -
Nasir Jamal,
Frima Nafsika,
Pickard Ben,
Malloy M. Pat,
Zhan Lingping,
Grünewald Richard
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20846
Subject(s) - dystonia , focal dystonia , blepharospasm , locus (genetics) , genetics , chromosome 18 , biology , positional cloning , chromosomal translocation , chromosome , gene , neuroscience
Dystonia represents a genetically and clinically heterogeneous disorder, characterized by abnormal and sustained muscle contractions and rigid postures. At least 15 different loci (DYT1–DYT15) have been identified in dystonia. Adult‐onset idiopathic focal dystonia affecting specific parts of the body, such as the eye (blepharospasm), neck (cervical dystonia), and hand (writer's cramp), is mostly associated with the DYT7 locus, which was originally mapped to chromosome 18p by genomewide linkage analysis in a large family showing autosomal dominant inheritance. We have identified a family in which the mother is affected with dystonia and the son shows signs of dystonia. Using fluorescent BAC probes spanning 18p, we were able to identify a deletion in these two individuals, spanning the entire short arm of 18p. This deletion is accompanied by a centric fusion involving chromosome 14. The 18p deleted region spans 15 megabases of DNA, with a number of interesting DYT7 candidate genes, including genes involved in G‐protein–coupled signaling ( GNAL ), cell death ( CIDEA ), muscle development ( MYOM1 and MRLM ), mitochondrial activity ( NDUFV2 ), and neuronal function ( ADYCAP1 , TGIF , DAP‐1 , and AFG3L2 ). © 2006 Movement Disorder Society