Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1

Annals of Neurology

Volumn 52, Issue 4, 2002, Pages 435-441

  Abbruzzese, Claudia ^a   Porrini, Sandro Costanzi ^a   Mariani, Bruno ^a   Gould, Fiona K ^b   Mcabney, John P ^b   Monckton, Darren G ^b   Ashizawa, Tetsuo ^c,d   Giacanelli, Manlio ^a  

^a SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d University of Texas Medical Branch School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; DISEASE TRANSMISSION; GENE DELETION; GENETIC STABILITY; GERM LINE; HUMAN; INHERITANCE; MALE; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIBLING; SOMATIC CELL GENETICS;

ADULT; AGED; ALLELES; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; MALE; MYOTONIC DYSTROPHY; PEDIGREE; PHENOTYPE; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0036789867     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10304     Document Type: Article

References (23)

1. Harper PS. Myotonic dystrophy. 3rd ed. London: WB Saunders, 2000.
2. Brook JD, McCurrach ME, Harley HG, et al. 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 1992;68:799-808.
3. Barceló JM, Mahadevan MS, Tsilfidis C, et al. Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Genet 1993;2:705-709.
4. Yamagata H, Miki T, Sakoda S-I, et al. Detection of a premutation in Japanese myotonic dystrophy. Hum Mol Genet 1994; 3:819-820.
5. Martorell L, Monckton DG, Sanchez A, et al. Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 2001;56:328-335.
6. Harper PS, Harley HG, Reardon W, Shaw DJ. Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet 1992;51:10-16.
7. Monckton DG, Wong L-JC, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansions, germline reversions and inter-generational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 1995;4:1-8.
8. Wong L-JC, Ashizawa T, Monckton DG, et al. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 1995;56:114-122.
9. Martorell L, Monckton DG, Gamez J, et al. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet 1998;7:307-312.
10. Ashizawa T, Dubel JR, Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993;43:2674-2678.
11. Anvret M, Ahlberg G, Grandell U, et al. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 1993;2: 1397-1400.
12. Thornton CA, Johnson KJ, Moxley RT. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 1994;35:104-107.
13. Jansen G, Willems P, Coerwinkel M, et al. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n variation and selection against extreme expansion in sperm. Am J Hum Genet 1994;54:575-585.
14. Martorell L, Monckton DG, Gamez J, Baiget M. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur J Hum Genet 2000;8: 423-430.
15. Martorell L, Illa I, Rosell J, et al. Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases. J Med Genet 1996;33:783-785.
16. Cobo A, Martinez JM, Martorell L, et al. Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters. Hum Mol Genet 1993;2:711-715.
17. Roeder E, Jain K, Timchenko L. Homozygous myotonic dystrophy. Am J Hum Genet 1994;55:A23.
18. Zlotogora J. Dominance and homozygosity. Am J Hum Genet 1997;68:412-416.
19. Koefoed P, Hasholt L, Fenger K, et al. Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1. Hum Genet 1998;103:564-569.
20. Igarashi S, Takiyama Y, Cancel G, et al. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum Mol Genet 1996;5: 923-932.
21. Jeffreys AJ, Tamaki K, MacLeod A, et al. Complex gene conversion events in germline mutation at human minisatellites. Nat Genet 1994;6:136-145.
22. Jackson AL, Loeb LA. On the origin of multiple mutations in human cancers. Semin Cancer Biol 1998;8:421-429.
23. Manley K, Shirley TL, Flaherty L, Messer A. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet 1999;23:471-473.