A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

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CARAPITO, Raphaël, PAUL, Nicodème, UNTRAU, Meiggie, LE GENTIL, Marion, OTT, Louise, ALSALEH, Ghada, JOCHEM, Pierre, RADOSAVLJEVIC, Mirjana, LE CAIGNEC, Cédric, DAVID, Albert, DAMIER, Philippe, ISIDOR, Bertrand et BAHRAM, Seiamak, 2014. A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Movement disorders : official journal of the Movement Disorder Society [en ligne]. 27 décembre 2014. Vol. 30, n° 3pp. 423-7. [Consulté 27 décembre 2014]. DOI 10.1002/mds.26115. Consulté de : http://onlinelibrary.wiley.com/doi/10.1002/mds.26115/abstract;jsessionid=5DE6DEBF5CA9704E21BCF408CAD8A061.f02t011. journal article. 2. research support, non-u.s. gov't. 3. video-audio media. 4. 2015 Mar. 5. 2014 12 27. 6. . 7. imported. 8. .
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Auteurs Raphaël Carapito
Nicodème Paul
Meiggie Untrau
Marion Le Gentil
Louise Ott
Ghada Alsaleh
Pierre Jochem
Mirjana Radosavljevic
Cédric Le Caignec
Albert David
Philippe Damier
Bertrand Isidor
Seiamak Bahram
Unité de recherche du site Immuno-Rhumatologie moléculaire - IRM - UMRS1109
Langue

en
Volume

30
Numéro

3
Page de début

423
Page de fin

427
Date de première publication

2014-12-27
Date de parution

2015-03
Titre de la source (revue, livre…)

Movement disorders : official journal of the Movement Disorder Society
Résumé

IMPORTANCE: Apart 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.
Show moreIMPORTANCE: Apart 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. OBSERVATIONS: Whole exome sequencing in a three-generation family affected with autosomal dominant chorea associated with dystonia identified a single de novo mutation—c.2088+1G>A in a 5' donor splice-site of ADCY5—segregating with the disease. This mutation seeming leads to RNA instability and therefore ADCY5 haploinsufficiency. CONCLUSIONS AND RELEVANCE: Our 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.
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DOI 10.1002/mds.26115
Éditeur

Wiley
URL éditeur http://onlinelibrary.wiley.com/doi/10.1002/mds.26115/abstract;jsessionid=5DE6DEBF5CA9704E21BCF408CAD8A061.f02t01
Titre abrégé de la source

Mov Disord
Type de publication

journal article
Type de publication

ACL
Domaine

Aucun
Mots-clés

ADCY5 ; chorea associated with dystonia ; exome
PMID 25545163
Fonction

aut
Identifiant idREF 07950924X
079509339
Audience

Non spécifiée
URL https://univoak.eu/islandora/object/islandora:66252