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

Nakhaei, Shahrbanoo; Heidary, Hamed; Rahimian, Aliasghar; Vafadar, Mahdi; Rohani, Farzaneh; Bahoosh, G.R.; Amirkashani, Davoud

doi:10.29252/ibj.22.6.415

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