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Iran Biomed J. 2018 Nov;22(6):415-9. Epub 2018 Feb 24.

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

Author information

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.

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

PMID:
29475365
PMCID:
PMC6305814
[Indexed for MEDLINE]
Free PMC Article

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