Document Detail

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
MedLine Citation:
PMID:  15467981     Owner:  NLM     Status:  MEDLINE    
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.
Richard J F L Lemmers; Mariëlle Wohlgemuth; Rune R Frants; George W Padberg; Eva Morava; Silvere M van der Maarel
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.     Date:  2004-10-04
Journal Detail:
Title:  American journal of human genetics     Volume:  75     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2004 Dec 
Date Detail:
Created Date:  2004-10-29     Completed Date:  2005-02-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1124-30     Citation Subset:  IM    
Leiden University Medical Center, Center for Human and Clinical Genetics, Department of Human Genetics, Leiden, The Netherlands.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Blotting, Southern
Chromosomes, Human, Pair 4 / genetics*
Muscular Dystrophy, Facioscapulohumeral / genetics*
Repetitive Sequences, Nucleic Acid / genetics*
Telomere / genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implication...
Next Document:  Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.