A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

Journal of Medical Genetics

Volumn 44, Issue 3, 2007, Pages 215-218

  Thomas, N S T ^a   Wiseman, K ^a   Spurlock, G ^a   MacDonald, M ^a   Ustek D ^b   Upadhyaya, M ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CAUCASIAN; CHROMOSOME 4Q; CHROMOSOME DELETION; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; DNA HYBRIDIZATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GEL ELECTROPHORESIS; GENE FREQUENCY; GENE LOCUS; GENE PROBE; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; POLYMORPHIC LOCUS; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; TANDEM REPEAT; TURKEY (REPUBLIC); UNITED KINGDOM; AUSTRALIA; CHROMOSOME 4; COHORT ANALYSIS; DOMINANT GENE; GENE DELETION; GENETICS; LETTER; OLIGONUCLEOTIDE PROBE; PENETRANCE; PHENOTYPE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ULTRASTRUCTURE; VARIABLE NUMBER OF TANDEM REPEAT;

COMPLEMENTARY DNA;

AUSTRALIA; CHROMOSOMES, HUMAN, PAIR 4; COHORT STUDIES; DNA, COMPLEMENTARY; ELECTROPHORESIS, GEL, PULSED-FIELD; GENES, DOMINANT; GREAT BRITAIN; HUMANS; MINISATELLITE REPEATS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; OLIGONUCLEOTIDE PROBES; PENETRANCE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE DELETION; TURKEY;

EID: 34147177128     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.042804     Document Type: Article

References (14)

1. Padberg GW. Facioscapulohumeral disease [Thesis]. Leiden, The Netherlands: Leiden University, 1982.
2. Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg G, Frants R. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy. Am J Hum Genet 1995;56:99-105.
3. Padberg, Facioscapulohumeral muscular dystrophy: a clinician's experience. In: Upadhyaya M, Cooper DN, eds. Facioscapulohumeral muscular dystrophy. Clinical medicine and molecular cell biology. Oxon: Garland Science/BIOS Scientific Publishers, 2004:41-54.
4. Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner ECB, Weber JL, Ommen GJ van, Sandkuyl LA, Frants RR. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics 1991;9:570-5.
5. van Deutekom JC, Wijmenga C, Tienhoven EA van, Gruter AM, Hewitt JE, Padberg GW, Ommen GJ van, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993;2:2037-42.
6. Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35- facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4:951-8.
7. Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DYGroup. Ann Neurol 1996;39:744-8.
8. Lemmers RJ, Kievit P de, Sandkuijl L, Padberg GW, Ommen GJ van, Frants RR, Maarel SM van der. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 2002;32:235-6.
9. van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics 2002;79:210-17.
10. Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet 2004;75:1124-30.
11. Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2005;15:471-5.
12. Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 1997;34:476-9.
13. Upadhyaya M, MacDonald M, Ravine D. Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD). Prenat Diagn 1999;19:959-65.
14. Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 2003;61:178-83.