Document Detail


Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
MedLine Citation:
PMID:  1731332     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, we propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.
Authors:
A H Beggs; P E Neumann; K Arahata; E Arikawa; I Nonaka; M S Anderson; L M Kunkel
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  89     ISSN:  0027-8424     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  1992 Jan 
Date Detail:
Created Date:  1992-02-18     Completed Date:  1992-02-18     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  623-7     Citation Subset:  IM    
Affiliation:
Howard Hughes Medical Institute, Children's Hospital, Boston, MA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Blotting, Western
Chromosome Deletion
Dystrophin / genetics*
Gene Expression
Genes
Genes, Recessive
Heterozygote
Humans
Linkage (Genetics)
Male
Muscular Dystrophies / genetics*,  pathology
Phenotype
X Chromosome
Grant Support
ID/Acronym/Agency:
HD 18658/HD/NICHD NIH HHS; NS 23740/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Dystrophin
Comments/Corrections

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


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