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

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NAKHAEI SHAHRBANOO; HEIDARY HAMED; RAHIMIAN ALIASGHAR; Vafadar Mahdi; Roohani Farzaneh; Bahoosh G.R.; Amir Kashani Davoud

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Journal: Iranian Biomedical Journal Year:2018 | Volume:22 | Issue:6 Page(s): 415-419

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Title

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

Author(s)

Keywords

Hepatomegaly

Ichthyosiform

Ichthyosis

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.

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APA: Copy

NAKHAEI, SHAHRBANOO, HEIDARY, HAMED, RAHIMIAN, ALIASGHAR, Vafadar, Mahdi, Roohani, Farzaneh, Bahoosh, G.R., & Amir Kashani, Davoud. (2018). A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene. IRANIAN BIOMEDICAL JOURNAL, 22(6), 415-419. SID. https://sid.ir/paper/755250/en

Vancouver: Copy

NAKHAEI SHAHRBANOO, HEIDARY HAMED, RAHIMIAN ALIASGHAR, Vafadar Mahdi, Roohani Farzaneh, Bahoosh G.R., Amir Kashani Davoud. A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene. IRANIAN BIOMEDICAL JOURNAL[Internet]. 2018;22(6):415-419. Available from: https://sid.ir/paper/755250/en

IEEE: Copy

SHAHRBANOO NAKHAEI, HAMED HEIDARY, ALIASGHAR RAHIMIAN, Mahdi Vafadar, Farzaneh Roohani, G.R. Bahoosh, and Davoud Amir Kashani, “A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene,” IRANIAN BIOMEDICAL JOURNAL, vol. 22, no. 6, pp. 415–419, 2018, [Online]. Available: https://sid.ir/paper/755250/en

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