Identification of a novel ABCDI gene mutation in 1 Chinese patient with adrenomyeloneuropathy and his family members / 中华神经医学杂志

ABSTRACT

Objective To identify the ABCD1 gene mutation in a patient suspected with adrenoleukodystrophy (ALD) and perform its gene analysis in his family members to make a definite diagnosis. Methods Total RNA and genomic DNA were extracted from the leukocytes of peripheral blood in the proband and the family members. The ABCD1 coding region of cDNA in the proband was amplified and sequenced. Mutational site in the ABCD1 gene of the proband was further confirmed by PGR and direct sequencing; at the same time, the mutation in the ABCD1 gene of the genomic DNA in the family members was analyzed by direct sequencing. Results Two bases deletions (656_657delGA)were identified and the corresponding mutation of fs R89 was detected in the ABCD1 gene of the proband, which could make the definite diagnosis of ALD that belonged to adrenomyeloneuropathy. The same gene mutation (ALD hemizygote) was noted in his cousin; his mother, younger sister of his mother and his younger female cousin were noted as the ALD carrers. His older sister was noted as ABCD1 normal genotype. Conclusions A novel ABCD1 gene mutation (fs R89) was identified in Chinese patient with ALD. Molecular testing is an effective way in making diagnosis on patient suspected as having X-linked ALD.