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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Eur. J. Med. Genet. 57, 207-211 (2014)
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit of a voltage gated calcium channel. While SCA6 is related to repeat expansions affecting the C-terminal part of the protein, EA2 and FHM phenotypes are usually associated with nonsense and missense mutations leading to impaired channel properties. In three unrelated families with dominant cerebellar ataxia, symptoms cosegregated with CACNA1A missense mutations of evolutionary highly conserved amino acids (exchanges p.E668K, p.R583Q and p.D302N). To evaluate pathogenic effects, in silico, protein modeling analyses were performed which indicate structural alterations of the novel mutation p.E668K within the homologous domain 2 affecting CACNA1A protein function.The phenotype is characterised by a very slowly progressive ataxia, while ataxic episodes or migraine are uncommon. These findings enlarge the phenotypic spectrum of CACNA1A mutations.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Cacna1a ; Ea2 ; Fhm1 ; Sca6 ; Spinocerebellar Ataxia ; Ion Channel Gene Defects ; Molecule Dynamic Simulation; Familial Hemiplegic Migraine; Calcium-channel; Cerebellar-ataxia; Gene; Phenotypes; Symptoms; Type-2; Sca6
ISSN (print) / ISBN
1769-7212
e-ISSN
1729-7212
Zeitschrift
European Journal of Medical Genetics
Quellenangaben
Band: 57,
Heft: 5,
Seiten: 207-211
Verlag
Elsevier
Verlagsort
Amsterdam
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)