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Licensed Unlicensed Requires Authentication Published by De Gruyter October 20, 2021

Newly defined peroxisomal disease with novel ACBD5 mutation

  • Ozlem Gorukmez ORCID logo , Cengiz Havalı ORCID logo , Orhan Gorukmez ORCID logo EMAIL logo and Sevil Dorum ORCID logo


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).

Corresponding author: Orhan Gorukmez, Department of Medical Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Yıldırım/Bursa, 16310, Turkey, E-mail:


We would like to thank Dr Sacha Ferdinandusse, the valuable lecturer of the Amsterdam UMC institution, for her contributions.

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The local Institutional Review Board deemed the study exempt from review.


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Received: 2020-06-11
Accepted: 2021-09-30
Published Online: 2021-10-20
Published in Print: 2022-01-27

© 2021 Walter de Gruyter GmbH, Berlin/Boston

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