Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of alpha/beta-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.
Nakhaei S, Heidary H, Rahimian A, Vafadar M, Rohani F, Bahoosh GR, Amirkashani D (2018) A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene Iran Biomed J22: 415-9
Nakhaei S, Heidary H, Rahimian A, Vafadar M, Rohani F, Bahoosh GR, Amirkashani D (2018) Iran Biomed J22: 415-9