Facioscapulohumeral muscular dystrophy: Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers

Journal of Neurology

Volumn 250, Issue 8, 2003, Pages 932-937

  Butz, Miriam ^a   Koch, Manuela C ^a   Müller Felber, Wolfgang ^b   Lemmers, Richard J L F ^c   Van Der Maarel, Silvère M ^c   Schreiber, Herbert ^d  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF ULM   (Germany)

Author keywords

D4Z4 repeat; Facial sparing FSHD; Facioscapulohumeral muscular dystrophy (FSHD); Phenotypical variety in FSHD

Indexed keywords

CREATINE KINASE; REPETITIVE DNA;

ADULT; AGED; ARTICLE; CHROMOSOME 4Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; D4Z4 REPEAT; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ELECTROMYOGRAM; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FAMILY HISTORY; FEMALE; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE STRENGTH; MYOPATHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PHENOTYPE; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0041379846     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-003-1116-y     Document Type: Article

References (23)

1. Busse K, Köhler J, Stegmann K, Pongratz D, Koch MC, Schreiber H (2000) An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD). Neuromusc Disord 10:178-181
2. Felice KJ, Moore SA (2001) Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve 24:352-356
3. Felice KJ, North WA, Moore SA, Mathews KD (2000) FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology 54:1927-1931
4. Gabellini D, Green MR, Tupler R (2002) Inappropriate gene activation in FSHD. A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110:339-348
5. Jardine PE, Upadhyaya M, Maynard J, Harper P, Lunt PW (1994) A scapular onset muscular dystrophy without facial involvement: possible alleism with facioscapulohumeral muscular dystrophy. Neuromusc Disord 4:477-482
6. Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM (2002) Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 32(2):235-236
7. Lunt PW, Jardine PE, Koch MC, et al. (1995) Phenotypic-genotypic correlation will assist genetic counselling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve (suppl. 2):103-109
8. Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA (1999) Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 52:1822-1826
9. Padberg GW, Lunt PW, Koch MC, Fardeau M (1991) Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromusc Disord 1(4):231-234
10. Personius KE, Pandya S, King WM, Tawil R, McDermott MP (1994) Facioscapulohumeral dystrophy natural history study: Standardization of testing procedures and reliability of measurements. Phys Ther 74:253-263
11. Ricci E, Galuzzi G, Deidda G, et al. (1999) Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol 45:751-757
12. Tupler R, Perini G, Pellegrino MA, Green MR (1999) Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. Proc Natl Acad Sci 26:12650-12654
13. Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS (1997) Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion. J Med Genet 34:476-479
14. Van der Kooi AJ, Visser MC, Rosenberg N, et al. (2000) Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry 69:114-116
15. Van der Maarel S, Deidda G, Lemmers RJLF et al. (1999) A new dosage test for subtelomeric 4; 10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 36:823-828
16. Van der Maarel S, Deidda G, Lemmers RJLF, et al. (2000) De novo facioscapulohumeral muscular dystrophy: frequent mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosome 4 and 10. Am J Hum Genet 66:26-35
17. Van Deutekom JCT, Bakker E, Lemmers RJLF, et al. (1996) Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 5:1997-2003
18. Van Deutekom JCT, Wijmenga C, van Tienhoven EAE, et al. (1993) FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2:2037-2042
19. Van Overveld PGM, Lemmers RJFL, Deidda G, et al. (2000) Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet 9:2879-2884
20. Vielhaber S, Jakubiczka S, Schröder JM, et al. (2002) Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb. Muscle Nerve 25:540-548
21. Vitelli F, Villanova M, Malandrini A, et al. (1999) Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy. Muscle Nerve 22:1437-1441
22. Weiffenbach B, Dubois J, Storvick, D, et al. (1993) Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events. Nat Genet 4:165-169
23. Wijmenga C, Hewitt JE, Sandkuijl LA, et al. (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2:26-30