%0 Journal Article %A Nakhaei, Shahrbanoo %A Heidary, Hamed %A Rahimian, Aliasghar %A Vafadar, Mahdi %A Rohani, Farzaneh %A Bahoosh, G.R. %A Amirkashani, Davoud %T A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene %J Iranian Biomedical Journal %V 22 %N 6 %U http://ibj.pasteur.ac.ir/article-1-2338-en.html %R 10.29252/ibj.22.6.415 %D 2018 %K Ichthyosiform, Hepatomegaly, Ichthyosis, %X Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as new cases of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5. According to the the American College of Medical Genetics and Genomics, this variant is categorized as a pathogenic variant. %> http://ibj.pasteur.ac.ir/article-1-2338-en.pdf %P 415-419 %& 415 %! A Novel Deletion in Chanarin-Dorfman Syndrome %9 Case Report %L A-10-1-716 %+ Department of Pediatrics, Faculty of Medicine, Ali Asghar Children Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran %G eng %@ 1028-852X %[ 2018