Evaluation of Point Mutations in Dystrophin Gene in Iranian Duchenne and Becker Muscular Dystrophy Patients: Introducing Three Novel Variants Publisher Pubmed



Haghshenas M¹ ; Akbari MT^{2, 3} ; Karizi SZ^{3, 4} ; Deilamani FK^{3, 5} ; Nafissi S⁶ ; Salehi Z¹
Source: Journal of Genetics Published:2016

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. © 2016, Indian Academy of Sciences.