Unbalanced whole arm translocation resulting in loss of 18p in dystonia
Nasir, Jamal and Frima, Nafsika and Pickard, Ben and Malloy, M. Pat and Zhan, Lingping and Grunewald, Richard (2006) Unbalanced whole arm translocation resulting in loss of 18p in dystonia. Movement Disorders, 21 (6). pp. 859-863. ISSN 0885-3185 (https://doi.org/10.1002/mds.20846)
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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).
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Item type: Article ID code: 51759 Dates: DateEventJune 2006Published15 March 2006Published OnlineSubjects: Science > Natural history > Genetics
Medicine > Internal medicine > Neuroscience. Biological psychiatry. Neuropsychiatry
Medicine > Pharmacy and materia medicaDepartment: Faculty of Science > Strathclyde Institute of Pharmacy and Biomedical Sciences Depositing user: Pure Administrator Date deposited: 18 Feb 2015 15:19 Last modified: 01 Aug 2024 14:16 Related URLs: URI: https://strathprints.strath.ac.uk/id/eprint/51759