Reyhaneh Khodadadi, Sahar Bayat, Samaneh Sadati, Milad Gholami,
Volume 28, Issue 6 (1-2026)
Abstract
Introduction: Adrenoleukodystrophy, inherited in an X-linked manner, is a progressive neurodegenerative disorder. It is the most common peroxisomal disorder and results from mutations in the ABCD1 gene. The disease manifests with a wide range of symptoms that can vary depending on the age of onset. Its estimated prevalence is approximately 1 in 17,000 live births. This study aimed to analyze the genetic profile of an individual with X-linked Adrenoleukodystrophy (X-ALD) through whole-exome sequencing.
Methods: A peripheral blood sample was obtained from a patient with clinical features consistent with adrenoleukodystrophy. Following the extraction of genomic DNA, whole-exome sequencing (WES) was conducted to identify potential genetic variants. Subsequent data analysis revealed a disease-causing mutation, which was confirmed by Sanger sequencing. The patient's mother was also tested to determine her carrier status. All ethical considerations were observed in accordance with the guidelines established by the National Committee for Ethics in Biomedical Research and the COPE standards.
Results: The study identified a hemizygous variant in the ABCD1 gene, (NM_000033.4) c.1777G>T (p.Gly593Ter), likely pathogenic, confirming the patient's diagnosis of X-linked Adrenoleukodystrophy (X-ALD). Genetic analysis of the patient’s mother revealed that she was a carrier.
Conclusions: A hemizygous variant in the ABCD1 gene was identified using whole exome sequencing. This variant can lead to X-linked Adrenoleukodystrophy.
