Abstract

Background: Mutations in the ABCD1 gene lead to X-linked adrenoleukodystrophy, a neurodegenerative disorder. Hundreds of hereditary mutations of the gene have been reported in patients with X-linked adrenoleukodystrophy, but there have been no reports of de novo mutations.

Methods: The coding region of ABCD1 cDNA of two patients was amplified and sequenced. To confirm the mutations in the ABCD1 gene of the patients and screen for mutations in their family members, the genomic DNA was analyzed by direct sequencing and denaturing high performance liquid chromatography.

Results: Two missense mutations (C631Y and G512S) were identified in the probands, but the mutations were not found in their parents. Tests for paternity identification excluded the possibility of misparentage.

Conclusions: The mutations identified in the two male patients were de novo mutations. Mutation analysis of parents of the proband may be helpful for pregnancy planning and evaluation of the recurrence risk to siblings of the proband.

Clin Chem Lab Med 2008;46:1702–6.