Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
The type and frequency of diagnostic testing was analyzed in a population-based cohort of boys with Duchenne muscular dystrophy or Becker muscular dystrophy. Use of muscle biopsy declined from 66.0% of boys born between January 1982 and September 1987 to 32.6% born between April 1999 and September 2004. DMD mutation was documented for 345 (73.4%) boys. Deletions were more common and point mutations were less common than that has been reported in specialty clinic or laboratory-based cohorts. Deletion of one or more exons was detected in 270 individuals (57.4% of all patients and 78.3% with a DMD mutation). Duplication was identified in 39 individuals (8.3% of all patients and 11.3% with a DMD mutation). Point mutation, small insertion, or small deletion was found in 36 individuals (7.7% of all patients and 10.4% with a DMD mutation). Point mutation analysis was performed in only 37 of 130 (28.5%) individuals with negative deletion and/or duplication testing.
Cunniff
Christopher
C
Department of Pediatrics, Steele Research Center, University of Arizona College of Medicine, 1501 N. Campbell Avenue, Tucson, Arizona 85724-5073, USA. ccunniff@peds.arizona.edu
Andrews
Jennifer
J
Meaney
F John
FJ
Mathews
Katherine D
KD
Matthews
Dennis
D
Ciafaloni
Emma
E
Miller
Timothy M
TM
Bodensteiner
John B
JB
Miller
Lisa A
LA
James
Katherine A
KA
Druschel
Charlotte M
CM
Romitti
Paul A
PA
Pandya
Shree
S
D000293:Adolescent; D001706:Biopsy / Q000706:statistics & numerical data; D002648:Child; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics; D017353:Gene Deletion; D020440:Gene Duplication; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D055815:Young Adult
C484258:DMD protein, human; D016189:Dystrophin; D005819:Genetic Markers