Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy

Christopher Cunniff; Jennifer Andrews; F John Meaney; Katherine D Mathews; Dennis Matthews; Emma Ciafaloni; Timothy M Miller; John B Bodensteiner; Lisa A Miller; Katherine A James; Charlotte M Druschel; Paul A Romitti; Shree Pandya

doi:10.1177/0883073808324770

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Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy

Journal article

Peer reviewed

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy

Christopher Cunniff, Jennifer Andrews, F John Meaney, Katherine D Mathews, Dennis Matthews, Emma Ciafaloni, Timothy M Miller, John B Bodensteiner, Lisa A Miller, Katherine A James, …

Journal of child neurology, Vol.24(4), pp.425-430

04/2009

DOI: 10.1177/0883073808324770

PMCID: PMC5882193

PMID: 19074751

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Abstract

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.

Gene Duplication

Gene Frequency - genetics

Genetic Predisposition to Disease - genetics

Genetic Testing

Humans

Genotype

Male

Muscular Dystrophy, Duchenne - epidemiology

Mutation - genetics

Young Adult

Point Mutation - genetics

Dystrophin - genetics

DNA Mutational Analysis

Gene Deletion

Genetic Markers - genetics

Adolescent

Biopsy - utilization

Muscular Dystrophy, Duchenne - genetics

Genetic Predisposition to Disease - epidemiology

Child

Cohort Studies

Muscular Dystrophy, Duchenne - diagnosis

Details

Title: Subtitle: Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy
Creators: Christopher Cunniff - 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
Jennifer Andrews
F John Meaney
Katherine D Mathews
Dennis Matthews
Emma Ciafaloni
Timothy M Miller
John B Bodensteiner
Lisa A Miller
Katherine A James
Charlotte M Druschel
Paul A Romitti
Shree Pandya
Resource Type: Journal article
Publication Details: Journal of child neurology, Vol.24(4), pp.425-430
DOI: 10.1177/0883073808324770
PMID: 19074751
PMCID: PMC5882193
NLM abbreviation: J Child Neurol
ISSN: 0883-0738
eISSN: 1708-8283
Publisher: United States
Grant note: U01 DD000189 / NCBDD CDC HHS U01 DD000187 / NCBDD CDC HHS 5U01DD000187 / NCBDD CDC HHS
Language: English
Date published: 04/2009
Academic Unit: Neurology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Biostatistics; Neurology (Pediatrics)
Record Identifier: 9983996190902771

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