Overview of genetic mutations causing adrenoleukodystrophy: A case-series study

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder resulted from mutations in the ABCD1 gene located at the Xq28 locus. This gene encodes a transporter protein responsible for importing very-long-chain fatty acids into peroxisomes. This research seeks to elucidate the clinical manifestations linked to various mutations in the ABCD gene among Iranian patients with X-ALD, considering the diverse severity of symptoms observed in this disease. Totally, six variants, including a novel variant (c.1781-47G > A) were identified in the ABCD1 gene in the patients. All but one variant were classified as pathogenic or likely pathogenic; the remaining variant, c.1781-47G > A, was identified as a variant of uncertain significance. This study broadens the spectrum of ABCD1 mutations among Iranian patients, providing applicable information for appropriate genetic counseling in the affected families.