دانلود Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation

Abstract

Duchenne  Muscular  Dystrophy  (DMD;  MIM  310200)  is  one  of  the  most  common  and  severe type  of  hereditary  muscular  dystrophies.  The  disease  is  caused  by  mutations  in  the  dystrophin gene.  The dystrophin gene is associated with X-linked recessive Duchenne and Becker muscular dystrophy.  This  disease  occurs  almost  exclusively  in  males.  The  clinical  symptoms  of  muscle weakness  usually begin  at  childhood.  The  main symptoms  of  this  disorder  are gradually muscular  weakness.    The  affected  patients  have  inability  to  standing  up  and  walking.  Death  is usually  due  to  respiratory  infection  or  cardiomyopathy.  In  this  article,  we  have  reported  the discovery of a new nonsense mutation that creates abnormal stop codon in the dystrophin gene. This  mutation  was  detected  using  Next  Generation  Sequencing  (NGS)  technique.    The  subject was  a  17-year-old  male  with  muscular  dystrophy  that  who  was  suspected  of  having  DMD.   He was referred to Hakim medical genetics center of Neyshabur, IRAN.