title: Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation.
abstract: Here we report a boy with dilated cardiomyopathy and severe Duchenne muscular dystrophy (DMD). The disease-causing mutation was a new 16 bp deletion in exon 44 of the dystrophin gene, which led to frameshifting and premature translation termination. This deletion in exon 44 was associated with dilated cardiomyopathy. The dystrophin region in exon 44 might be considered as one of the high-risk regions in which mutations could lead to myocardial damage, dilated cardiomyopathy, and early death. The abundance of repeated motifs was detected within the deleted segment and in the region. These sequence motifs might be involved in secondary structure formation and thus they could participate in the mutation generation.
authors.affiliation: Laboratory of Molecular Pathology, Hospital of Obstetrics and Gynaecology, Medical University, 2 Zdrave Street, Sofia 1431, Bulgaria. todorova@ns.medfac.acad.bg
authors.forename: Albena
authors.initials: A
authors.lastname: Todorova
authors.forename: Dimitrina
authors.initials: D
authors.lastname: Constantinova
authors.forename: Ivo
authors.initials: I
authors.lastname: Kremensky
mesh_terms: D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis
chemical_list: D016189:Dystrophin