fa Genetics & Disease Genetics & Disease Case Report Case Report <p>Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in <em>PANK2</em> gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthesis. Here we report two cases of classic PKAN syndrome with early onset of neurodegenerative disorder. Mutational analysis has &nbsp;&nbsp;brevealed that both are homozygous for a novel nonsense mutation in <em>PANK2</em> gene (c.T936A (p.C312X)). The high prevalence of consanguineous marriages in Iran raises the likelihood of occurrence of autosomal recessive disorders such as PKAN and necessitates proper premarital genetic counseling. Further research is needed to provide the data on the prevalence of PKAN and identification of common <em>PANK2</em> mutations in Iranian population.</p> PANK2, pantothenate kinase-associated neurodegeneration, mutation 255 259 http://ijmcmed.org/browse.php?a_code=A-10-772-2&slc_lang=fa&sid=1 Soudeh Ghafouri-Fard s.ghafourifard@sbmu.ac.ir 10031947532846008718 10031947532846008718 No Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran. Vahid Reza Yassaee v.yassaee-grc@sbmu.ac.ir 10031947532846008719 10031947532846008719 No Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Alireza Rezayi rezayi@razi.yums.ac.ir 10031947532846008720 10031947532846008720 No Pediatric Neurology Department, Loghman Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Feyzollah Hashemi-Gorji hashemigorji@sbmu.ac.ir 10031947532846008721 10031947532846008721 No Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Nasrin Alipour nalipour@sbmu.ac.ir 10031947532846008722 10031947532846008722 No Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Mohammad Miryounesi mmiryounesi123@gmail.com 10031947532846008723 10031947532846008723 Yes Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.