关键词: 肾上腺脑白质营养不良, ABCD1基因, 突变检测

Abstract: Objective To analyse the clinical features of a kindred with adrenoleukodystrophy (ALD) and detect the mutation of ABCD1 gene. Methods A Chinese ALD kindred with four affected males in four-generation was studied. ALD was diagnosed according to clinical manifestations, cranial MRI image and serum very long chain fatty acid (VLCFA) levels. Mutation of ABCD1 was detected by direct DNA sequencing of polymerase chain reaction amplification product. Results Primary adrenocortical insufficiency and neurological dysfunction were the main manifestations of the patients. MRI image indicated extensive cerebral white matter demyelination. Serum VLCFA level was significantly high. A novel missense substitution (c.4037 C>T) in exon 8 of ABCD1 was identified. All affected males were hemizygotes and female carriers were heterzygotes. Conclusions The typical manifestations of ALD were primary adrenocortical insufficiency and neurological dysfunction. A missense substitution (c.4037 C>T) in exon 8 of ABCD1 was novel mutation firstly detected in this Chinese pedigree with ALD.

Key words: adrenoleukodystrophy, ABCD1 gene, mutation detection