A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene

A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene Publisher Pubmed

Nakhaei S¹ ; Heidary H¹ ; Rahimian A² ; Vafadar M¹ ; Roohani F³ ; Bahoosh GR¹ ; Amirkashani D¹

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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

Source: Iranian Biomedical Journal Published:2018

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 a new case 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. © 2018, Pasteur Institute of Iran. All rights reserved.

Style	Citing Format
MLA	Nakhaei S, et al.. "A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene." Iranian Biomedical Journal, vol. 22, no. 6, 2018, pp. 415-419.
APA	Nakhaei S, Heidary H, Rahimian A, Vafadar M, Roohani F, Bahoosh GR, Amirkashani D (2018). A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene. Iranian Biomedical Journal, 22(6), 415-419.
Chicago	Nakhaei S, Heidary H, Rahimian A, Vafadar M, Roohani F, Bahoosh GR, Amirkashani D. "A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene." Iranian Biomedical Journal 22, no. 6 (2018): 415-419.
Harvard	Nakhaei S et al. (2018) 'A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene', Iranian Biomedical Journal, 22(6), pp. 415-419.
Vancouver	Nakhaei S, Heidary H, Rahimian A, Vafadar M, Roohani F, Bahoosh GR, et al.. A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene. Iranian Biomedical Journal. 2018;22(6):415-419.
BibTex	@article{ author = {Nakhaei S and Heidary H and Rahimian A and Vafadar M and Roohani F and Bahoosh GR and Amirkashani D}, title = {A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene}, journal = {Iranian Biomedical Journal}, volume = {22}, number = {6}, pages = {415-419}, year = {2018} }
RIS	TY - JOUR AU - Nakhaei S AU - Heidary H AU - Rahimian A AU - Vafadar M AU - Roohani F AU - Bahoosh GR AU - Amirkashani D TI - A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene JO - Iranian Biomedical Journal VL - 22 IS - 6 SP - 415 EP - 419 PY - 2018 ER -

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