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

Authors
Shahrbanoo Nakhaei 1
Hamed Heidary 1
Aliasghar Rahimian 2
Mahdi Vafadar 1
Farzaneh Rohani 3
G.R. Bahoosh 1
Davoud Amirkashani 1
1 Department of Pediatrics, Faculty of Medicine, Ali Asghar Children Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran
2 Department of Medical Biochemistry, Tehran University of Medical Sciences, Tehran, Iran
3 Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran
10.29252/ibj.22.6.415
Abstract
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.
Keywords
Ichthyosiform
Hepatomegaly
Ichthyosis