en عمومى Human Genetics پژوهشي Research <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><b><span style="font-size:12.0pt">Background</span></b></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><span style="font-size:12.0pt"><span style="background:white"><span style="color:#212121">Retinitis pigmentosa is a heterogeneous genetic disorder with progressive degeneration of the retina leading to a progressive visual loss.</span></span></span><span style="font-size:12.0pt"><span style="color:#231f20"></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><b><span style="font-size:12.0pt">Objectives</span></b></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><span style="font-size:12.0pt"><span style="color:#231f20">The aim of this study was to identify the probable genetic cause of </span></span><span style="font-size:12.0pt"><span style="background:white"><span style="color:#212121">retinitis pigmentosa</span></span></span><span style="font-size:12.0pt"><span style="color:#231f20"> in 4 unrelated patients.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><b><span style="font-size:12.0pt">Methods</span></b></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><span style="font-size:12.0pt"><span style="color:#231f20">Whole exome sequencing was used to investigate the mutations.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><b><span style="font-size:12.0pt">Results</span></b></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><span style="font-size:12.0pt"><span style="color:#231f20">We found different variants in </span></span><span style="font-size:12.0pt"><span style="color:black">RP1L1</span></span><span style="font-size:12.0pt"><span style="color:#231f20">, </span></span><span style="font-size:12.0pt"><span style="color:black">AIPL1, EYS and CRB1</span></span><span style="font-size:12.0pt"><span style="color:#231f20"> genes including three novel and two previously reported mutations.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><b><span style="font-size:12.0pt">Conclusions</span></b></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span sans-serif="" style="font-family:Calibri,"><span style="font-size:12.0pt"><span style="color:#231f20">Since the disease has clinical and genetic heterogeneity, whole exome sequencing is the recommended method to find the disease causing mutations.</span></span></span></span></span></span><br> <br> &nbsp; Retinitis pigmentosa, Whole exome sequencing, Vision 0 0 http://humangeneticsgenomics.ir/browse.php?a_code=A-10-182-5&slc_lang=en&sid=1 Faravar Khordadpoor faravarkhordadpoor@yahoo.com 1003194753284600459 1003194753284600459 Yes Tehran Medical Genetics laboratory, Tehran, Iran.