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- Title
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.
- Authors
Zamani, Gholam; Karami, Fatemeh; Mehdizadeh, Mahshid; Movafagh, Abolfazl; Nilipour, Yalda; Zamani, Mahdi; Zamani, Gholam Reza
- 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.
- Subjects
IRAN; DYSTROPHIN genetics; GENETIC mutation; DUCHENNE muscular dystrophy; MUSCULAR dystrophy genetics; NUCLEOTIDE sequencing; EXONS (Genetics); DELETION mutation; IRANIANS; GENES; RETROSPECTIVE studies; SEQUENCE analysis
- Publication
Neurological Sciences, 2015, Vol 36, Issue 11, p2011
- ISSN
1590-1874
- Publication type
journal article
- DOI
10.1007/s10072-015-2290-2