Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy

Richard J.F.L. Lemmers, Mariëlle Wohlgemuth, Rune R. Frants, George W. Padberg, Eva Morava, Silvère M. Van Der Maarel

Research output: Contribution to journalArticle

85 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1124-1130
Number of pages7
JournalAmerican journal of human genetics
Volume75
Issue number6
DOIs
StatePublished - Dec 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Lemmers, R. J. F. L., Wohlgemuth, M., Frants, R. R., Padberg, G. W., Morava, E., & Van Der Maarel, S. M. (2004). Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. American journal of human genetics, 75(6), 1124-1130. https://doi.org/10.1086/426035