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A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene
Shahrbanoo Nakhaei , Hamed Heidary , Aliasghar Rahimian , Mahdi Vafadar , Farzaneh Rohani , G.R. Bahoosh , Davoud Amirkashani
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 a new case 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
Full-Text [PDF 846 kb]      
Type of Study: Case Report | Subject: Molecular Genetics & Genomics
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