A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Autor:	Hasturk BA; Department of Pediatrics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Cinar Ç; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Zubarioglu T; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Tiryaki-Demir S; University of Health Sciences, Sisli Hamidiye Etfal Training and Research Hospital, Department of Ophthalmology, Istanbul, Turkey., Cansever MS; Department of Medical Services and Techniques, Vocational School of Health Services, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Kiykim E; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Kalaycı Yigin A; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Yalcinkaya C; Department of Neurology, Division of Pediatric Neurology, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Aktuglu-Zeybek C; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey.
Jazyk:	angličtina
Zdroj:	Molecular syndromology [Mol Syndromol] 2024 Jun; Vol. 15 (3), pp. 232-239. Date of Electronic Publication: 2024 Jan 25.
DOI:	10.1159/000535534
Abstrakt:	Introduction: Acyl-CoA binding domain containing 5 (ACBD5) deficiency is a newly defined inborn peroxisomal disorder with only 7 patients reported to date. Herein, we report a patient with ACBD5 deficiency who was diagnosed after a complicated diagnostic process. Case Presentation: A 6-year-old male patient was admitted with complaints of neuromotor regression and visual disturbances. He had spastic paraparesis dominated with axial hypotonic posturing and horizontal nystagmus. His very-long-chain fatty acid levels were within normal ranges with a slightly elevated C26:0/C22:0 ratio. Brain magnetic resonance imaging revealed white matter involvement. Clinical exome sequencing displayed a novel homozygous intronic splice site variant (c.936 + 2T>G) in the ACBD5 (NM_145698.5) gene. Conclusion: With this report, a novel variant in ACBD5 deficiency was described. Macular dystrophy was demonstrated with optical coherence tomography imaging for the first time in the literature in ACBD5 deficiency. In order to contribute to the knowledge about the clinical, biochemical, and genetic spectrum of ACBD5 deficiency, new patients need to be defined. Competing Interests: The authors have no conflicts of interest to declare. (© 2024 S. Karger AG, Basel.)
Databáze:	MEDLINE
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