A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)

@article{Maarel1999AND,
  title={A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)},
  author={S. M. van der Maarel and G. Deidda and R. Lemmers and E. Bakker and M. V. D. van der Wielen and L. Sandkuijl and J. Hewitt and G. Padberg and R. Frants},
  journal={Journal of Medical Genetics},
  year={1999},
  volume={36},
  pages={823 - 828}
}
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the size reduction of a polymorphic repeat array on 4q35. Probe p13E-11 recognises this chromosomal rearrangement and is generally used for diagnosis. However, diagnosis of FSHD is complicated by three factors. First, the probe cross hybridises to a highly homologous repeat array locus on chromosome 10q26. Second, although aBlnI polymorphism allows discrimination between the repeat units on chromosomes 4 and 10 and greatly facilitates… Expand
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36 Citations
Highly Influential Citations
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Background Citations
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Methods Citations
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Results Citations
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36 Citations

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Citation Type

FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease
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Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients
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Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
  • 47
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4
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Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb
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Improved characterization of FSHD mutations.
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D4F104S1 deletion in facioscapulohumeral muscular dystrophy
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Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments
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Single-molecule optical mapping enables accurate molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
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Genetic heterogeneity in South African facioscapulohumeral muscular dystrophy (FSHD) families
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References

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The FSHD‐linked locus D4F104S1 (p13E‐11) ON 4q35 has a homologue on 10qter
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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
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Physical Mapping Evidence for a Duplicated Region on Chromosome 10qter Showing High Homology with the Facioscapulohumeral Muscular Dystrophy Locus on Chromosome 4qter
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FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.
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Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy.
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