Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11459
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Type: Journal article
Title: Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Author: Friend, K.
Crimmins, D.
Phan, T.
Sue, C.
Colley, A.
Fung, V.
Morris, J.
Sutherland, G.
Richards, R.
Citation: Human Genetics, 1999; 105(3):261-265
Publisher: SPRINGER VERLAG
Issue Date: 1999
ISSN: 0340-6717
1432-1203
Statement of
Responsibility: 
Friend, K.L. ; Crimmins, D. ; Phan, T.G. ; Sue, C.M. ; Colley, A. ; Fung, V.S.C. ; Morris, J.G.L. ; Sutherland, G.R. ; Richards, R.I.
Abstract: Mutations in the brain specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, viz. episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 (SCA6). For individuals with EA-2, the mutations described thus far are presumed to result in a truncated protein product. Several different missense mutations have been identified in patients with FHM. At least two of these mutations have been identified on two different chromosome 19p13 haplotypes and thus represent recurrent mutations. In the present study, we have screened several individuals for mutations in all 47 exons in the CACNA1A gene by single-strand conformation analysis. We have characterised a novel missense mutation, G5260A, in exon 32 in a family segregating for EA-2. The consequence of this mutation is an amino acid substitution at a highly conserved position within the CACNA1A gene. This represents the first point mutation not resulting in a proposed truncated protein. Furthermore, this mutation has been detected in a family member with mild clinical signs including only migraine. Additionally, a second previously identified recurrent muta tion, C2272T, in exon 16 has been discovered in a patient with FHM.
Keywords: Chromosomes, Human, Pair 19; Humans; Ataxia; Hemiplegia; Calcium Channels; DNA; Pedigree; Sequence Alignment; DNA Mutational Analysis; Amino Acid Sequence; Microsatellite Repeats; Sequence Homology, Amino Acid; Mutation; Mutation, Missense; Polymorphism, Single-Stranded Conformational; Molecular Sequence Data; Family Health; Female; Male; Migraine Disorders; Genetic Linkage
RMID: 0030004295
DOI: 10.1007/s004399900101
Appears in Collections:Genetics publications

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