Newly defined peroxisomal disease with novel ACBD5 mutation-Reference-Cited by-同舟云学术

Newly defined peroxisomal disease with novel ACBD5 mutation

Published:2021-10-20 Issue:1 Volume:35 Page:11-18
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Gorukmez Ozlem¹^ORCID,Havalı Cengiz²^ORCID,Gorukmez Orhan¹^ORCID,Dorum Sevil³^ORCID

Affiliation:

1. Department of Medical Genetics , Bursa Yüksek Ihtisas Training and Research Hospital , Bursa , Turkey

2. Department of Pediatrics , Division of Neurology, Bursa Yüksek Ihtisas Training and Research Hospital , Bursa , Turkey

3. Department of Pediatrics , Division of Metabolism, Bursa Yüksek Ihtisas Training and Research Hospital , Bursa , Turkey

Abstract

Abstract Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been described in recent years. Here, we report two siblings with a novel homozygous nonsense variation (c.1297C>T, p.Arg433*) in ACBD5 (NM_145698.4) gene using Clinical Exome Sequencing (Sophia Genetics).

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2020-0352/pdf

Reference24 articles.

1. Aubourg, P, Wanders, R. Peroxisomal disorders. Handb Clin Neurol 2013;113:1593–609, https://doi.org/10.1016/b978-0-444-59565-2.00028-9.

2. Steinberg, SJ, Dodt, G, Raymond, GV, Braverman, NE, Moser, AB, Moser, HW. Peroxisome biogenesis disorders. Biochim Biophys Acta 2006;1763:1733–48, https://doi.org/10.1016/j.bbamcr.2006.09.010.

3. Buchert, R, Tawamie, H, Smith, C, Uebe, S, Innes, AM, Al Hallak, B, et al.. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA Reductase 1 deficiency. Am J Hum Genet 2014;95:602–10, https://doi.org/10.1016/j.ajhg.2014.10.003.

4. Monte, MJ, Alonso, M, Briz, O, Herraez, E, Macias, RIR, Perez, MJ, et al.. Identification of a new inborn error in the peroxisomal steps of bile acid synthesis resulting in accumulation of toxic bile acid intermediates and hepatocellular damage. J Hepatol 2016;64:S301, https://doi.org/10.1016/s0168-8278(16)00388-3.

5. Abu-Safieh, L, Alrashed, M, Anazi, S, Alkuraya, H, Khan, AO, Al-Owain, M, et al.. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res 2013;23:236–47, https://doi.org/10.1101/gr.144105.112.

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