en عمومى Human Genetics گزارش کوتاه Short report <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="color:#231f20">Familial Hemophagocytic lymphohistiocytosis is an autosomal recessive lethal disorder caused by mutations in several genes. The immune system is overactivated in this disease and several organs such as liver and spleen are affected. Since Haematopoitic stem cell transplantation is essencial for surviving the patients with familial hemophagocytic lymphohistiocytosis, the easrly diagnosis is critical.</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 determine the probable genetic cause of disease in an infant with unclear primary diagnosis and suspected to suffer from blood cancer, Hemophagocytic lymphohistiocytosis or </span></span><span style="font-size:12.0pt">polycyctic liver disease<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">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 and Sanger sequencing were used to investigate the mutation and its confirmation respectively.</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 a compound heterozugous mutation in PRF1 gene including one novel nonsense and one previously reported missense 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">Due to the disease and clinical heterogeneity, next generation sequencing is the recommended method to find the disease causing mutations and confirm the disease.</span></span></span></span></span></span> Hemophagocytic lymphohistiocytosis, PRF1, Whole exome sequencing, immune system 0 0 http://humangeneticsgenomics.ir/browse.php?a_code=A-10-182-4&slc_lang=en&sid=1 Faravareh Khordadpoor Deilamani faravarkhordadpoor@yahoo.com 1003194753284600359 1003194753284600359 Yes Tehran Medical Genetics laboratory, Tehran, Iran