Document Detail


Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction.
MedLine Citation:
PMID:  1867267     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Neonatal screening for Duchenne/Becker Muscular dystrophy (DMD/BMD) was begun as a pilot program on January 1, 1986. The aim of this program was to reduce the incidence of this X-linked recessive degenerative neuromuscular disease. The neonatal detection of a boy with DMD allows early identification of carriers and genetic counselling. This may avert the birth of other affected males born prior to clinical diagnosis of DMD in the propositus at about age 5 years. Between January 1, 1986, and December 31, 1988, we identified and characterized a cohort of 8 asymptomatic infant boys with grossly elevated levels of creatine kinase, an active primary dystrophic process of muscle and complete dystrophin deficiency. Five of 8 males have detectable DNA alterations involving the DMD/BMD locus. Based on current hypotheses, characterization of dystrophin expression of this cohort allows us to predict a DMD phenotype in all 8 boys. To date, no additional males with DMD have been born in these families. Prospective follow-up will allow us to test the validity of dystrophin testing in predicting the clinical course and impact of this program on reproductive decision making in these families.
Authors:
C R Greenberg; H K Jacobs; W Halliday; K Wrogemann
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  39     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1991 Apr 
Date Detail:
Created Date:  1991-09-12     Completed Date:  1991-09-12     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  68-75     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, University of Manitoba, Winnipeg, Canada.
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MeSH Terms
Descriptor/Qualifier:
Cohort Studies
Creatine Kinase / metabolism
Decision Making
Dystrophin / biosynthesis,  genetics
Female
Follow-Up Studies
Gene Expression
Genetic Counseling
Genetic Testing*
Humans
Incidence
Infant, Newborn
Male
Muscular Dystrophies / diagnosis*,  genetics
Pedigree
Phenotype
Reproducibility of Results
Chemical
Reg. No./Substance:
0/Dystrophin; EC 2.7.3.2/Creatine Kinase

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


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