title: Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients.
abstract: Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational spectrum, and genetic diagnosis is complicated by incomplete mutation detection rates. Recently, novel dysferlin transcripts were characterized by identifying alternative exons 1 of DYSF-v1 (GenBank DQ267935), exon 5a (GenBank DQ976379), and exon 40a (GenBank EF015906). To evaluate the frequency of possible mutations in the newly identified DYSF alternative exons, we screened the corresponding genomic regions for mutations in a cohort of 26 patients, carrying only one mutation undoubtedly considered as disease causing in the 55 canonical DYSF exons. No disease-causing mutation was identified in alternative exons 1 of DYSF-v1, exon 5a, and exon 40a, demonstrating a low frequency of disease-causing mutations in these exons.
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
authors.forename: Véronique
authors.initials: V
authors.lastname: Labelle
authors.forename: Ana
authors.initials: A
authors.lastname: Borges
authors.forename: Marc
authors.initials: M
authors.lastname: Bartoli
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
mesh_terms: D001483:Base Sequence; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D000073939:Dysferlin; D005091:Exons; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D022821:RNA Splice Sites
chemical_list: D017931:DNA Primers; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D022821:RNA Splice Sites