title: The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
abstract: Although the majority (65%) of boys with Duchenne muscular dystrophy (DMD) carry a deletion in the dystrophin gene, finding mutations in the remaining families is vital for counselling. We have provided a comprehensive mutation service as a national referral centre for France for over 10 years and we report here our experience. Mutation screening is on mRNA from a muscle biopsy. We have detected 79 mutations in 89 samples referred with a diagnosis of DMD, which is the most comprehensive survey to date of the full range of nondeletion mutations. Although some mutations were nonsense mutations, some frameshift mutations and some splicing mutations, all of them led to the generation of premature stop codons or a shortened product which could be detected using the Protein Truncation Test. We recommend a protocol which is robust and sensitive applied to the entire coding region reverse-transcribed from dystrophin transcripts from muscle biopsy.
authors.affiliation: Laboratoire de Génétique Moleculaire et Chromosomique, Institut Universitaire de Recherche Clinique (IURC), CHU de Montpellier, 641 avenue du Doyen G. Giraud, 34093 Montpellier Cedex 5, France. tuffery@igh.cnrs.fr
authors.forename: Sylvie
authors.initials: S
authors.lastname: Tuffery-Giraud
authors.forename: Céline
authors.initials: C
authors.lastname: Saquet
authors.forename: Sylvie
authors.initials: S
authors.lastname: Chambert
authors.forename: Bernard
authors.initials: B
authors.lastname: Echenne
authors.forename: Jean
authors.initials: J
authors.lastname: Marie Cuisset
authors.forename: François
authors.initials: F
authors.lastname: Rivier
authors.forename: Mireille
authors.initials: M
authors.lastname: Cossée
authors.forename: Christophe
authors.initials: C
authors.lastname: Philippe
authors.forename: Nicole
authors.initials: N
authors.lastname: Monnier
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.forename: Dominique
authors.initials: D
authors.lastname: Recan
authors.forename: Marie
authors.initials: M
authors.lastname: Antoinette Voelckel
authors.forename: Serge
authors.initials: S
authors.lastname: Perelman
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Lambert
authors.forename: Sue
authors.initials: S
authors.lastname: Malcolm
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
mesh_terms: D001706:Biopsy / Q000379:methods; D015139:Blotting, Southern; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D016189:Dystrophin / Q000235:genetics*; D005192:Family Health; D035082:Federal Government; D005602:France; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism / Q000473:pathology*; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D012333:RNA, Messenger / Q000096:biosynthesis; D012017:Referral and Consultation / Q000706:statistics & numerical data*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D016189:Dystrophin; D012333:RNA, Messenger