Dystrophin and DNA diagnosis in a large pediatric muscle clinic

S. Richards, S. T. Iannaccone

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Eighty-seven unrelated patients from a large muscle clinic setting were analyzed by DNA for deletions in the dystrophin gene for diagnosis of Duchenne/Becker muscular dystrophy. The clinical phenotype of the patient population included 72% Duchenne, 13% Becker, and 15% outlier patients. Dystrophin gene deletions were detected in 61% of these patients, and disease phenotype was predicted by DNA with an accuracy of 95%. While DNA did not confirm diagnosis in all patients, dystrophin analysis of muscle biopsies, when available, predicted a disease phenotype. In the 66 patients in which muscle biopsies were available for analysis, the results of the dystrophin analysis agreed with actual clinical phenotype with 86% accuracy. Less agreement between dystrophin and clinical phenotype predictions were found in the Becker patient population. We suggest that, in at least 61% of Duchenne/Becker patients, DNA analysis provides a rapid and accurate diagnosis. DNA is less invasive and less expensive than biopsy and may allow family risk assessment. Therefore, DNA analysis may become the first recommended laboratory procedure for Duchenne/Becker diagnosis, and muscle biopsy with dystrophin analysis may become necessary only for those patients with undetectable gene mutations.

Original languageEnglish (US)
Pages (from-to)162-166
Number of pages5
JournalJournal of Child Neurology
Volume9
Issue number2
StatePublished - 1994

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Dystrophin
Pediatrics
Muscles
DNA
Phenotype
Biopsy
Duchenne Muscular Dystrophy
Gene Deletion
Population
Genes
Mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Dystrophin and DNA diagnosis in a large pediatric muscle clinic. / Richards, S.; Iannaccone, S. T.

In: Journal of Child Neurology, Vol. 9, No. 2, 1994, p. 162-166.

Research output: Contribution to journalArticle

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abstract = "Eighty-seven unrelated patients from a large muscle clinic setting were analyzed by DNA for deletions in the dystrophin gene for diagnosis of Duchenne/Becker muscular dystrophy. The clinical phenotype of the patient population included 72{\%} Duchenne, 13{\%} Becker, and 15{\%} outlier patients. Dystrophin gene deletions were detected in 61{\%} of these patients, and disease phenotype was predicted by DNA with an accuracy of 95{\%}. While DNA did not confirm diagnosis in all patients, dystrophin analysis of muscle biopsies, when available, predicted a disease phenotype. In the 66 patients in which muscle biopsies were available for analysis, the results of the dystrophin analysis agreed with actual clinical phenotype with 86{\%} accuracy. Less agreement between dystrophin and clinical phenotype predictions were found in the Becker patient population. We suggest that, in at least 61{\%} of Duchenne/Becker patients, DNA analysis provides a rapid and accurate diagnosis. DNA is less invasive and less expensive than biopsy and may allow family risk assessment. Therefore, DNA analysis may become the first recommended laboratory procedure for Duchenne/Becker diagnosis, and muscle biopsy with dystrophin analysis may become necessary only for those patients with undetectable gene mutations.",
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