BACKGROUND: 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. OBJECTIVE: We describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death. METHODS: Diagnosis was based on clinical symptoms, an abnormal very long chain fatty acid profile in plasma, typical CCALD MRI pattern, and molecular analysis. RESULTS: 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. CONCLUSION: We have identified a novel ABCD1 mutation as the likely cause of CCALD in a Chinese patient.
BACKGROUND: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. OBJECTIVE: We describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death. METHODS: Diagnosis was based on clinical symptoms, an abnormal very long chain fatty acid profile in plasma, typical CCALD MRI pattern, and molecular analysis. RESULTS: 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. CONCLUSION: We have identified a novel ABCD1 mutation as the likely cause of CCALD in a Chinese patient.