期刊
MOVEMENT DISORDERS
卷 30, 期 3, 页码 423-427出版社
WILEY-BLACKWELL
DOI: 10.1002/mds.26115
关键词
chorea associated with dystonia; ADCY5; exome
资金
- Strasbourg High Throughput Next Generation Sequencing facility (GENOMAX)
- INSERM [UMR_S 1109]
ImportanceApart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. Here we identify adenylate cyclase 5 (ADCY5) as a likely new causal gene for early-onset chorea and dystonia. ObservationsWhole exome sequencing in a three-generation family affected with autosomal dominant chorea associated with dystonia identified a single de novo mutationc.2088+1G>A in a 5' donor splice-site of ADCY5segregating with the disease. This mutation seeming leads to RNA instability and therefore ADCY5 haploinsufficiency. Conclusions and RelevanceOur finding confirms the genetic/clinical heterogeneity of the disorder; corroborated by previous identification of ADCY5 mutations in one family with dyskinesia-facial myokymia and in two unrelated sporadic cases of paxoysmal choreic/dystonia-facial myokymia; ADCY5's high expression in the striatum and movement disorders in ADCY5-deficient mice. Hence ADCY5 genetic analyses may be relevant in the diagnostic workup of unexplained early-onset hyperkinetic movement disorders. (c) 2014 International Parkinson and Movement Disorder Society
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