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Updated: Jun 23, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel ABCD1 frameshift mutation detected in a Chinese male with adrenomyeloneuropathy
Background:
Adrenomyeloneuropathy (AMN), an adult-onset form of X-linked adrenoleukodystrophy (X-ALD), is caused by pathogenic mutations in ABCD1 gene.
Case:
We reported a 60-year-old Chinese male with 15-year chronic progressive spastic paraplegia without symptoms suggesting adrenal insufficiency.
Results:
Critical findings included abnormal plasma very long-chain fatty acids (VLCFAs), slightly elevated ACTH, and a novel pathogenic ABCD1 mutation (c.172_198delinsACGCAGGA, p.Ser58Thrfs*4) confirmed by genetic testing, which established the AMN diagnosis.
Conclusion:
Our case underscores that VLCFA analysis combined with ABCD1 sequencing is essential for diagnosing AMN in adult-onset spastic paraplegia and further illustrates the phenotypic heterogeneity and imperfect genotype-phenotype correlation in X-ALD via this severe truncating mutation with benign late-onset presentation.
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