A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of the <i>ABCD1</i> gene (c.1256T > G (p.Val419Gly)) were retrospectively analyzed. Furthermore, we constructed wild-type and mutant vectors of the <i>ABCD1</i> (NM0000334) gene to validate the effect of this mutation on the expression of the <i>ABCD1</i> gene and protein and to explore the mechanism of X-linked adrenoleukodystrophy occurrence and development to identify therapeutic targets for clinical treatment.