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A 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 ?/?-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.

SUBMITTER: Nakhaei S 

PROVIDER: S-EPMC6305814 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

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

Nakhaei Shahrbanoo S   Heidary Hamed H   Rahimian Aliasghar A   Vafadar Mahdi M   Rohani Farzaneh F   Bahoosh Gholam Reza GR   Amirkashani Davoud D  

Iranian biomedical journal 20180224 6


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 analysi  ...[more]

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