Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

American Journal of Human Genetics

Volumn 61, Issue 1, 1997, Pages 101-110

  Monrós, Eugènia ^a,c   Moltó, Maria Dolores ^b   Martínez, Francisco ^a   Cañizares, Joaquín ^b   Blanca, José ^b   Vílchez, Juan J ^a   Prieto, Félix ^a   De Frutos, Rosa ^b   Palau, Francesc ^a,b  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b UNIVERSITY OF VALENCIA   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; FAMILY; FEMALE; FRIEDREICH ATAXIA; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MEIOSIS; ONSET AGE; PARENT; PHENOTYPE; PRIORITY JOURNAL; PROGENY; REFLEX; TRINUCLEOTIDE REPEAT; VERTICAL TRANSMISSION;

ATAXIA;

EID: 0030862745     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/513887     Document Type: Article

References (39)

1. Alborilas ET, Shub C, Gomez MR, Edwards WD, Hagler DJ, Reeder GS, Seward JB, et al (1986) Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. Am J Cardiol 58:518-524
2. Ashley CT, Warren ST (1995) Trinucleotide repeat expansion and human disease. Annu Rev Genet 29:703-728
3. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Chruch D, Aburatani H, Hunter K, et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799-808
4. Brunner HG, Brüggenwirth HT, Nillesen W, Jansen G, Hamel BCJ, Hoppe RLE, de Die CEM, et al (1993) Influence of sex of the transmitting parent as well as the parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet 53:1016-1023
5. Campuzano V, Montermini L, Moltó MD, Pianese L, Cossée M, Cavalcanti F, Monrós E, et al (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427
6. Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, von Gabain A, et al (1988) Mapping of the mutation causing Friedriech's ataxia to human chromosome 9. Nature 334:248-250
7. Chamberlain S, Shaw J, Wallis J, Rowland A, Chow L, Farrall M, Keats B, et al (1989) Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. Am J Hum Genet 44: 518-521
8. Child JS, Perloff JHK, Bach PM, Wolfe AD, Perlman S, Kark RAP (1986) Cardiac involvement of Friedreich's ataxia: a clinical study of 75 patients: J Am Coll Cardiol 7:1370-1378
9. De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, et al (1994) J Neurol Neurosurg Psychiatry 57:977-979
10. Dürr A, Cossée M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel J-L, et al (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335: 1169-1175
11. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59:554-560
12. Fujita R, Agid Y, Trouillas P, Seck A, Tommasi-Davenas C, Driesel A, Olek K, et al (1989) Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics 4:110-111
13. Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JB (1976) Clinical description and roentgenlogic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 3:279-286
14. Harding AE (1981) Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104:589-620
15. Harding AE, Hewer RL (1983) The heart disease of Friedreich's: a clinical and electrophysiologic study. Q J Med 52: 489-502
16. Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, et al (1993) Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 52:1164-1174
17. Hewer RL (1969) The heart in Friedreich's ataxia. Br Heart J 31:514
18. Imbert G, Kretz C, Johnson K, Mandel J-L (1993) Origin of the expansion mutation in myotonic dystrophy. Nat Genet 4:72-76
19. Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, et al (1991) Mapping of DNA instability at the fragile X to trinucleotide repeat sequence p(CCG)n. Science 252:1711-1714
20. La Spada AR, Paulson HL, Fischbeck KH (1994) Trinucleotide repeat expansion in neurological disease. Ann Neurol 36: 814-822
21. Lavedan C, Hofmann-Radvanyi H, Boileau C, Bonaiti-Pellie C, Savoy D, Shelbourne P, Duros C, et al (1994) French myotonic families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1kb insertion. J Med Genet 31:33-36
22. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes J-P, Duros C, Savoy D, Dehaupas I, et al (1993) Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 52:875-883
23. Loesch DZ, Huggins R, Petrovic V, Slater H (1995) Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring. Am J Hum Genet 57:1408-1413
24. López-Arlandis JM, Vílchez JJ, Palau F, Sevilla T (1995) Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis. Neuroepidemiology 14:14-19
25. Mandel J-L (1993) Questions on expansion. Nat Genet 4: 8-9
26. Monrós E, Cañizares J, Moltó MD, Rodius F, Montermini L, Cossée M, Martínez F, et al (1996) Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population. Eur J Hum Genet 4:191-198
27. Monrós E, Smeyers P, Rodius F, Cañizares, Moltó MD, Vílchez JJ, Pandolfo M, et al (1994) Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent. Eur J Hum Genet 2:291-299
28. Mulley JC, Yu S, Gedeon AK, Donnelly A, Turner G, Loesch D, Chapman CJ, et al (1992) Experience with direct molecular diagnosis of fragile X. J Med Genet 29:368-374
29. Oudet C, Mornet E, Serre JL, Thomas F, Lentes-Zengerlin S, Kretz C, Deluchat C, et al (1993) Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet 52:297-304
30. Palau F, De Michele G, Vílchez J, Pandolfo M, Monrós E, Cocozza S, Smeyers P, et al (1995) Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 37:359-362
31. Pandolfo M, Sirugo G, Antonelli A, Weitnauer L, Ferretti L, Leone M, Dones I, et al (1990) Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with marker loci D9S5 and D9S15. Am J Hum Genet 47: 228-235
32. Polo JM, Calleja J, Combarros O, Berciano J (1991) Hereditary ataxias and paraplegias in Cantabria, Spain: an epidemiological and clinical study. Brain 114:855-866
33. Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, et al (1992) Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1:257-260
34. Richards RI, Sutherland GR (1992) Hereditable unstable DNA sequences. Nat Genet 1:5-6
35. Romeo G, Menozzi P, Ferlini A, Fadda S, Di Donato S, Uziel G, Lucci B, et al (1983) Incidence of Friedreich ataxia in Italy estimated from consaguineous marriages. Am J Hum Genet 35:523-529
36. Tsilfidis C, MacKenzie AE, Mettler G, Barceló J, Korneluk RG (1992) Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1:192-195
37. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, Reiner O, et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
38. Warren ST (1996) The expanding world of trinucleotide repeats. Science 271:1374-1375
39. Winter RN, Harding AE, Baraitser M, Bravery MB (1981) Intrafamilial correlation of Friedreich's ataxia. Clin Genet 20:419-427