[Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy].

Objective To explore the genetic basis for a pedigree affected with X-linked adrenoleukodystrophy presenting as spastic paraplegia of the lower limbs. Methods Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Candidate variant was verified by PCR and Sanger sequencing. Results Both the proband and his mother presented with walking difficulty. A previously known variant, c. 623T>A (p.V208E), was identified in the ABCD1 gene mapped on chromosome X in both. Conclusion X-link adrenoleukodystrophy should be taken into account as a possible diagnosis for this pedigree. Key words: X-linked adrenoleukodystrophy; ABCD1 gene; Next-generation sequencing