Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy

Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the D4Z4 repeat in the subtelomere of chromosome 4q. Two allelic variants of chromosome 4q (4qA and 4qB) exist in the region distal to D4Z4. Although both variants are almost equally frequent in the population, FSHD is...

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Bibliographic Details
Published in:American journal of human genetics Vol. 75; no. 6; pp. 1124 - 1130
Main Authors: Lemmers, Richard J. F.L., Wohlgemuth, Mariëlle, Frants, Rune R., Padberg, George W., Morava, Eva, van der Maarel, Silvère M.
Format: Journal Article
Language:English
Published: Chicago, IL Elsevier Inc 01-12-2004
University of Chicago Press
The American Society of Human Genetics
Subjects:
Alleles
Biological and medical sciences
Blotting, Southern
Chromosomes, Human, Pair 4 - genetics
Diseases of striated muscles. Neuromuscular diseases
Humans
Medical sciences
Muscular Dystrophy, Facioscapulohumeral - genetics
Netherlands
Neurology
Pedigree
Repetitive Sequences, Nucleic Acid - genetics
Telomere - genetics
Netherlands
Human
Neuromuscular diseases
Nervous system diseases
Repeated sequence
Genetics
Chromosome B4
Facioscapulohumeral
Muscular dystrophy
Genetic disease
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Summary:Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the D4Z4 repeat in the subtelomere of chromosome 4q. Two allelic variants of chromosome 4q (4qA and 4qB) exist in the region distal to D4Z4. Although both variants are almost equally frequent in the population, FSHD is associated exclusively with the 4qA allele. We identified three families with FSHD in which each proband carries two FSHD-sized alleles and is heterozygous for the 4qA/4qB polymorphism. Segregation analysis demonstrated that FSHD-sized 4qB alleles are not associated with disease, since these were present in unaffected family members. Thus, in addition to a contraction of D4Z4, additional cis-acting elements on 4qA may be required for the development of FSHD. Alternatively, 4qB subtelomeres may contain elements that prevent FSHD pathogenesis.
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ISSN:0002-9297
1537-6605
DOI:10.1086/426035