title: Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy.
abstract: The identification of two independent mutations is rarely described between affected members of the same family with Duchenne Muscular Dystrophy. This study reports the presence of two distinct intragenic dystrophin deletions in a Turkish family. Exon 54 deletion was identified originally in the proband, whereas his maternal cousin had deletions of exons 43-50 in the dystrophin gene. As indicated, only the mother of the proband was identified as exon 54 deletion carrier however, the proband's cousin was detected as a sporadic case. These molecular genetic data reveal an interesting and novel mixture, in the same family, of both mutations of the same gene.
authors.affiliation: Department of Medical Biology, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.
authors.forename: Burcu
authors.initials: B
authors.lastname: Balci-Hayta
authors.forename: Beril
authors.initials: B
authors.lastname: Talim
authors.forename: Pervin
authors.initials: P
authors.lastname: Dinçer
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloğlu
mesh_terms: D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005190:Family; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D014421:Turkey
chemical_list: D016189:Dystrophin