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Iran Biomed J. 2018 Nov;22(6):415-9. Epub 2018 Feb 24.

A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene

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Department of Pediatrics, Faculty of Medicine, Ali Asghar Children Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
Department of Medical Biochemistry, Tehran University of Medical Sciences, Tehran, Iran.
Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran.


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.


Ichthyosiform; Hepatomegaly; Ichthyosis

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