new case of Chanarin-Dorfman syndrome with a novel deletion in ABHD5 gene

ABSTRACT

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 American College of Medical Genetics and Genomics, this variant is categorized as a pathogenic variant