Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy / 中华医学遗传学杂志

ABSTRACT

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 to 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.