title: Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.
abstract: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most frequent muscular dystrophies. Present study aimed to determine the frequency of dystrophin gene alterations in Iranian DMD/BMD patients using molecular techniques. 146 Iranian DMD/BMD patients have been analyzed using two devised sets of multiplex polymerase chain reaction (M-PCR) followed by multiple ligation-dependent probe amplification (MLPA). Two isolated DMD and BMD patients were analyzed by DNA sequencing. 30.9 % of patients had single-exon deletion while group and contiguous exon deletions were identified in 41 % of the patients. The most numerous exon deletions included exons 45-50 and were identified in the first M-PCR set. Deletion detection rate was 99 % in first M-PCR set and remaining deletions (1 %) were identified in the second M-PCR set. MLPA analysis showed that there were two exons 3-5 and 41-43 duplications (1.4 %) in a BMD and a DMD patient, respectively. Two nonsense mutations including c.633dupA and c.6283 C>T were, respectively, found in a DMD and BMD patient in which c.633dupA has not ever been reported in DMD mutation database and was pathogenic mutation. Besides the report of frequency of dystrophin gene alteration in a subset of Iranian DMD/BMD patients, it was revealed that the proposed M-PCR protocol can be useful in the initial step of molecular diagnosis of DMD/BMD. Exon sequencing would be the final step in determining the mutation status of DMD/BMD patients following MLPA.
authors.affiliation: Department of Neurology, Children's Medical Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.|Department of Neurogenetics, Iranian Center of Neurological Research, Tehran University of Medical Sciences, 1417613151, Tehran, Iran.
authors.forename: Gholam Reza
authors.initials: GR
authors.lastname: Zamani
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Karami
authors.affiliation: Department of Pediatric Hematology and Oncology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mahshid
authors.initials: M
authors.lastname: Mehdizadeh
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Abolfazl
authors.initials: A
authors.lastname: Movafagh
authors.affiliation: Pediatric Pathology Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Yalda
authors.initials: Y
authors.lastname: Nilipour
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. mzamani@tums.ac.ir.|Department of Neurogenetics, Iranian Center of Neurological Research, Tehran University of Medical Sciences, 1417613151, Tehran, Iran. mzamani@tums.ac.ir.
authors.forename: Mahdi
authors.initials: M
authors.lastname: Zamani
mesh_terms: D002648:Child; D018389:Codon, Nonsense; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D007492:Iran; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D018389:Codon, Nonsense
keywords: BMD; DMD; MLPA; Multiplex PCR; Mutation