A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.

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X-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in the ABCD1 gene on chromosome Xq28. Childhood cerebral ALD (CCALD) is the most frequent phenotype. We describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death. Diagnosis was based on clinical symptoms, an abnormal very long chain fatty acid profile in plasma, typical CCALD MRI pattern, and molecular analysis. Direct sequencing of the ABCD1 gene in this patient identified a novel splicing mutation (IVS1+1G>A) in intron 1, which is considered to be the pathogenic mutation. We have identified a novel ABCD1 mutation as the likely cause of CCALD in a Chinese patient.