title: Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.
abstract: Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked neuromuscular diseases characterized by progressive muscular weakness and degeneration of skeletal muscles. Approximately two-thirds of the patients have large deletions or duplications in the dystrophin gene and the remaining one-third have point mutations. This study was performed to evaluate point mutations in Iranian DMD/BMD male patients. A total of 29 DNA samples from patients who did not show any large deletion/duplication mutations following multiplex polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) screening were sequenced for detection of point mutations in exons 50-79. Also exon 44 was sequenced in one sample in which a false positive deletion was detected by MLPA method. Cycle sequencing revealed four nonsense, one frameshift and two splice site mutations as well as two missense variants.
authors.affiliation: Faculty of Sciences, Department of Biology, University of Guilan, Rasht 4199613776, Iran.mtakbari@modares.ac.ir.
authors.forename: Maryam
authors.initials: M
authors.lastname: Haghshenas
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.forename: Shohreh Zare
authors.initials: SZ
authors.lastname: Karizi
authors.forename: Faravareh Khordadpoor
authors.initials: FK
authors.lastname: Deilamani
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
authors.forename: Zivar
authors.initials: Z
authors.lastname: Salehi
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D015870:Gene Expression; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D016189:Dystrophin