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Publication year
2004Source
American Journal of Human Genetics, 75, 6, (2004), pp. 1124-30ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Paediatrics - OUD tm 2017
Human Genetics
Journal title
American Journal of Human Genetics
Volume
vol. 75
Issue
iss. 6
Page start
p. 1124
Page end
p. 30
Subject
UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolismAbstract
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.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122541]
- Faculty of Medical Sciences [90373]
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