Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

Human Genetics

Volumn 105, Issue 3, 1999, Pages 261-265

  Friend, Kathryn L ^a   Crimmins, Denis ^a   Phan, Thanh G ^b   Sue, Carolyn M ^b   Colley, Alison ^a,e   Fung, Victor S C ^b   Morris, John G L ^b   Sutherland, Grant R ^a,c   Richards, Robert I ^a,d  

^a Dept Cytogenet Molec Genet W ^*  (Australia)

^b WESTMEAD HOSPITAL   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e Health Services Building   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; MUTANT PROTEIN;

ARTICLE; ATAXIA; CHROMOSOME 19P; CLINICAL ARTICLE; EXON; FEMALE; HAPLOTYPE; HUMAN; MALE; MIGRAINE; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINOCEREBELLAR DEGENERATION;

AMINO ACID SEQUENCE; ATAXIA; CALCIUM CHANNELS; CHROMOSOMES, HUMAN, PAIR 19; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HEMIPLEGIA; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIGRAINE DISORDERS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032872916     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051099     Document Type: Article

References (28)

1. Bradshaw P, Parsons M (1965) Hemiplegic migraine; a clinical study Q J Med 34:65-85
2. Cooper DN, Krawczak M (1993) Human gene mutation. Bios Scientific, Oxford
3. Ducros A, Joutel A, Vahedi K, Cecillon M, Ferreira A, Bernard E, Verier A, Echenne B, Lopez de Munain A, Bousser MG, Tournier-Lasserve E (1997) Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann Neurol 42:885-890
4. Ducros A, Denier C, Joutel A, Vahedi K, Michel A, Darcel F, Madigand M, Guerouaou D, Tison F, Julien J, Hirsch E, Chedru F, Bisgård C, Lucotte G, Després P, Billard C, Barthez MA, Ponsot G, Bousser MG, Tournier-Lasserve E (1999) Recurrence of the T666 M calcium channel CACNAIA gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am J Hum Genet 64:89-98
5. Farrher TW, Mustian UM (1963) Vestibulocerebellar ataxia. Arch Neurol 8:471-480
6. Gardner K, Barmada MM, Ptacek LJ, Hoffman EP (1997) A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology 49:1231-1238
7. Griggs RC, Moxley RT 3d, Lafrance RA, McQuillen J (1978) Hereditary paroxysmal ataxia response to acetazolamide. Neurology 28:1259-1264
8. Heyk H (1973) Varieties of hemiplegic migraine. Headache 12: 135-142
9. Jodice C, Mantuano E, Veneziano L, Treltel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F Salvi F, Ophoff RA, Frants RR, Frontali M (1997) Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNAIA gene on chromosome 19p. Hum Mol Genet 6:1973-1978
10. Jordanova A, Kalaydjieva L, Savov A, Claustres M, Schwarz M, Estivill X, Angelicheva D, Haworth A, Casals T, Kremensky I (1997) SSCP analysis: a blind sensitivity trial. Hum Mutat 10:65-70
11. Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach MA, Weissenbach J, et al (1993) A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 5:40-45
12. Lathrop GM, Lalouel JM (1984) Easy calculation of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
13. Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, Udaka F, Kameyama M, Nishio T, Kuroda Y, Nishimura M, Nakamura S (1997) Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6) Hum Mol Genet 6:1283-1287
14. Ollila J (1996) Sequence specificity in CpG mutation hotspots. FEBS Lett 396:119-122
15. Ophoff RA, Eijk R van, Sandkuijl LA, Terwindt GM, Grubben CP, Haan J, Lindhout D, Ferrari MD, Frants RR (1994) Genetic heterogeneity of familial hemiplegic migraine. Genomics 22:21-26
16. 2+ channel gene CACNLAI4 Cell 87:543-552
17. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) A rapid and sensitive detection of point mutations and genetic polymorphisms using polymerase chain reaction. Genomics 5:874-879
18. Ranvik-Glavac M, Glavac D, Dean M (1994) Sensitivity of single stand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Genet 3:801-807
19. Riess O, Schols L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, Kreuz F, Macek M Jr, Krebsova A, Macek M Sen, Klockgether T, Zuhlke C, Laccone FA (1997) SCA6 is caused by moderate expansion in the α1A-voltage-dependent calcium channel gene Hum Mol Genet 6:1283-1287
20. Sheffield V, Beck JS, Kwitek AE, Sandstrom DW, Stone EM (1993) The sensitivity of single strand conformation polymorphism analysis. Genomics 16:325-332
21. Stea A, Soong TW, Snutch TP (1995) Voltage gated calcium channels. In: North RA (ed) Ligand-and voltage-gated ion channels. CRC Press, Boca Raton, pp 113-151
22. Tanabe T, Takeshima H, Mikami A, Flockerzi V, Takahashi H, Kangawa K, Kojima M, Matsuo H, Hirose T, Numa S (1987) Primary structure of the receptor for calcium channel blockers from skeletal muscle. Nature 328:313-318
23. Terwindt GM, Ophoff RA, Haan J, Vergouwe MN, Eijk R van, Frants RR, Ferrara MD (1998) Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine : Dutch Migraine Genetics Research Group. Neurology 50:1105-1110
24. White JC (1969) Familial periodic nystagmus, vertigo and ataxia. Arch Neurol 20:276-280
25. Whitty CWM (1986) Familial hemiplegic migraine. J Neurol Neurosurg Psychiatry 16:172-178
26. Yue Q, Jen JC, Nelson SF, Baloh RW (1997) Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 61:1078-1087
27. Yue Q, Jen JC, Thwe MM, Nelson SF, Baloh RW (1998) De novo mutation in CACNAIA caused acetazolamide-responsive episodic ataxia. Am J Med Genet 77:298-301
28. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the al A voltage-dependent calcium channel. Nat Genet 15:62-69