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A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene Publisher Pubmed



Nakhaei S1 ; Heidary H1 ; Rahimian A2 ; Vafadar M1 ; Roohani F3 ; Bahoosh GR1 ; Amirkashani D1
Authors

Source: Iranian Biomedical Journal Published:2018


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. © 2018, Pasteur Institute of Iran. All rights reserved.
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