AUTHOR=Shi Xiaoxue , Qi Xuelin , Zheng Jinhua , Ma Jianjun , Li Dongsheng 

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

JOURNAL=Frontiers in Genetics

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1421122

DOI=10.3389/fgene.2024.1421122

ISSN=1664-8021

ABSTRACT=<p>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 <italic>ABCD1</italic> gene (c.1256T &gt; G (p.Val419Gly)) were retrospectively analyzed. Furthermore, we constructed wild-type and mutant vectors of the <italic>ABCD1</italic> (NM0000334) gene to validate the effect of this mutation on the expression of the <italic>ABCD1</italic> gene and protein and to explore the mechanism of X-linked adrenoleukodystrophy occurrence and development to identify therapeutic targets for clinical treatment.</p>