ArticleArchives of neurology2012
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Article in Archives of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
68 citing papers in PubMed, 124 citations in OpenAlex.
- Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.NPJ genomic medicine · 2026Article
- Deep Brain Stimulation for Status Dyskineticus in ADCY5-Related Dyskinesia in a 60-Year-Old Woman.Movement disorders clinical practice · 2025Article
- Artemisinin alleviates Parkinson's disease by targeting Adcy5-Gch1 axis to trigger a cascade generation of BH4 and dopamine in rats.Genome biology · 2025Article
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Genetic etiology of progressive pediatric neurological disorders.Pediatric research · 2024Article
- Genetic alterations in the neuronal development genes are associated with changes of the tumor immune microenvironment in pancreatic cancer.Annals of pancreatic cancer · 2023Article
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
- Gait Abnormalities and Aberrant D2 Receptor Expression and Signaling in Mice Carrying the Human Pathogenic MutationMolecular pharmacology · 2023Article
- Article
- Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous NonsenseMovement disorders clinical practice · 2023Review
- Association ofInternational journal of molecular sciences · 2022Article
- A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.American journal of human genetics · 2022Article
- Structure ofeLife · 2022Article
- Genetic analysis of right heart structure and function in 40,000 people.Nature genetics · 2022Article
- ADCY5 Related Dyskinesia-A Rare Mutation.Movement disorders clinical practice · 2022Article
- Physiological roles of mammalian transmembrane adenylyl cyclase isoforms.Physiological reviews · 2022Review
- Expression and functions of adenylyl cyclases in the CNS.Fluids and barriers of the CNS · 2022Review
- Members of the KCTD family are major regulators of cAMP signaling.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Blink index as a response predictor of blepharospasm to botulinum neurotoxin-A treatment.Brain and behavior · 2021Article
- Hypothalamic and ovarian transcriptome profiling reveals potential candidate genes in low and high egg production of white Muscovy ducks (Cairina moschata).Poultry science · 2021Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
backgroundFamilial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder that is exacerbated by anxiety. In a 5-generation family of German ancestry, we previously mapped FDFM to chromosome band 3p21-3q21. The 72.5-Mb linkage region was too large for traditional positional mutation identification.
objectiveTo identify the gene responsible for FDFM by exome resequencing of a single affected individual.
participantsWe performed whole exome sequencing in 1 affected individual and used a series of bioinformatic filters, including functional significance and presence in dbSNP or the 1000 Genomes Project, to reduce the number of candidate variants. Co-segregation analysis was performed in 15 additional individuals in 3 generations.
main outcome measuresUnique DNA variants in the linkage region that co-segregate with FDFM.
resultsThe exome contained 23 428 single-nucleotide variants, of which 9391 were missense, nonsense, or splice site alterations. The critical region contained 323 variants, 5 of which were not present in 1 of the sequence databases. Adenylyl cyclase 5 (ADCY5) was the only gene in which the variant (c.2176G>A) was co-transmitted perfectly with disease status and was not present in 3510 control white exomes. This residue is highly conserved, and the change is nonconservative and predicted to be damaging.
conclusionsADCY5 is highly expressed in striatum. Mice deficient in Adcy5 develop a movement disorder that is worsened by stress. We conclude that FDFM likely results from a missense mutation in ADCY5. This study demonstrates the power of a single exome sequence combined with linkage information to identify causative genes for rare autosomal dominant mendelian diseases.
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