Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Movement Disorders

Volumn 31, Issue 8, 2016, Pages 1251-1252

  Miltgen, Morgane ^a   Blanchard, Arnaud ^a   Mathieu, Hélène ^a   Kreisler, Alexandre ^b,c   Jean Pierre Desvignes, ^a   Salgado, David ^a   Roubertie, Agathe ^d   Barre, Laura ^a   Rai, Ghadi ^a   Blanck, Veronique ^e   Frederic, Melissa ^a   Douay, Xavier ^b   Mazzolenni, Ronald ^b   Charpentier, Pierre ^f   Gonzalez, Victoria ^d   Destée, Alain ^b,c   Béroud, Christophe ^a,e   Collod Béroud, Gwenaelle ^a  

^a AIX MARSEILLE UNIVERSITY   (France)

^b UNIV LILLE   (France)

^c JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^d GUI DE CHAULIAC HOSPITAL   (France)

^e TIMONE HOSPITAL   (France)

^f Service de neurologie   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANO3 PROTEIN; BOTULINUM TOXIN A; DOPAMINE RECEPTOR BLOCKING AGENT; PROTEIN; UNCLASSIFIED DRUG; ANO3 PROTEIN, HUMAN; ANOCTAMIN;

ADULT; AGED; APRAXIA; BEHAVIOR DISORDER; BLEPHAROSPASM; CASE REPORT; CERVICAL DYSTONIA; CRANIOCERVICAL DYSTONIA; EXOME; EXON; EYELID MOVEMENT; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HYDROPHOBICITY; INVOLUNTARY MOVEMENT; LETTER; LIMB TREMOR; MENTAL DEFICIENCY; MIDDLE AGED; OROMANDIBULAR DYSTONIA; PRIORITY JOURNAL; CAUCASIAN; FEMALE; GENETICS; MALE; MUTATION; PEDIGREE; TORTICOLLIS; TREMOR; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; ANOCTAMINS; BLEPHAROSPASM; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TORTICOLLIS; TREMOR;

EID: 84978033968     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26717     Document Type: Letter

References (7)

1. Charlesworth G, Plagnol V, Holmstrom KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012;91:1041–1050.
2. Salgado D, Desvignes JP, Rai G, et al. UMD-Predictor: a high throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution. Hum Mutat 2016;37:439–446.
3. Schwarz JM, Cooper DN, Schuelke M, et al. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014;11:361–362.
4. Ma LY, Wang L, Yang YM, et al. Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families. Mov Disord 2015;30:743–744.
5. Zech M, Gross N, Jochim A, et al. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov Disord 2014;29:143–147.
6. Paulet D, Claustres M, Béroud C. Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units. BMC Bioinformatics 2011;12:135.
7. Stamelou M, Charlesworth G, Cordivari C, et al. The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord 2014;29:928–934.