Newly defined peroxisomal disease with novel ACBD5 mutation
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).
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Febrile convulsions were reported in two ACBD5-deficient patients during early childhood.
“febrile convulsions were reported in two others already during early childhood (Gorukmez et al., 2022)”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Gorukmez et al., 2022
Delayed language development was reported in five ACBD5-deficient patients.
“and delayed language development in five (Ferdinandusse et al., 2017; Bartlett et al., 2021; Gorukmez et al., 2022; Hasturk et al., 2024; Al Shamsi et al., 2025; Supplementary Table 1).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Gorukmez et al., 2022
Two other cases of ACBD5-related retinal dystrophy developed seizures at times of fevers and febrile episodes have been reported to exacerbate neurologic symptoms in the setting of an alternative peroxisomal disorder.
“Notably, two other cases of ACBD5-related retinal dystrophy developed seizures at times of fevers and febrile episodes have been reported to exacerbate neurologic symptoms in the setting of an alternative peroxisomal disorder (Gorukmez et al., 2022;Hashimoto et al., 2005).”
From <scp>ACBD5</scp>‐related retinal dystrophy with leukodystrophy due to novel mutations in <i>ACBD5</i> and with additional features including ovarian insufficiency (2024) · cites this paper as Gorukmez et al., 2022
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Kors, S., Schuster, M., Maddison, D. C., Kilaru, S., Schrader, T. A., Costello, J. L., Islinger, M., Smith, G. A., & Schrader, M. (2024) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2024.119843 · Cited by 12 · see citing works
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“Early motor development was normal in our case, but can be variable, with both normal and delayed milestones reported in other cases (Abu-Safieh et al., 2013; Bartlett et al., 2021; Ferdinandusse et al., 2017; Gorukmez et al., 2022).”
BackgroundInfluentialThe neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models
Dawes, M. L., Haberlander, J. P., Islinger, M., & Schrader, M. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1602343 · Cited by 7 · see citing works
- Authors
- Gorukmez, O., Havalı, C., Gorukmez, O., & Dorum, S.
- Affiliations
- Department of Medical Genetics , Bursa Yüksek Ihtisas Training and Research Hospital , Bursa , Turkey
- S.B.Ü. Bursa Yüksek İhtisas Eğitim ve Araştırma Hastanesi (TR)
- Venue
- Journal of Pediatric Endocrinology and Metabolism
- Publisher
- Walter de Gruyter GmbH
- Published
- 2021-10-20
- Volume
- 35
- Issue
- 1
- Pages
- 11-18
- ISSN
- 0334-018X (ISSN-L)
- 2191-0251
- OpenAlex
- W3206742052
- Cited by
- 12
- References
- 7
- Citations by year
- 2025: 2 · 2024: 3 · 2023: 5 · 2022: 2
- FWCI
- 1.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Pediatric Endocrinology and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- peroxisomal disorders, homozygous nonsense variant, novel mutations, siblings, peroxisome biogenesis, genetic diagnosis
- MeSH terms
- Audiometry, Child, Child, Preschool, Female, Humans, Membrane Proteins, Mutation, Peroxisomal Disorders, Adaptor Proteins, Signal Transducing, Retinal Dystrophies
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