title: Two novel multiple mutations in chinese patients with adrenoleukodystrophy.
abstract: X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Up to now, more than 1 050 mutations have been reported in the ABCD1 gene, of which only 10 are multiple mutations in one allele of the gene. In this study, we report 2 novel multiple mutations in 2 patients with X-ALD from 2 unrelated Chinese families. Total RNA and genomic DNA were isolated from peripheral blood of the 2 patients, and the ABCD1 gene was analyzed by direct sequencing and denaturing high-performance liquid chromatography. We detected [p.Ser108X+p.Arg259Trp] in patient 1, [p.Lys217Glu+p.Val489Val] in patient 2 in one allele of the ABCD1 gene. Both novel multiple mutations have not previously been reported and this is the first report of multiple mutations identified in Chinese patients with X-ALD.
authors.affiliation: Research Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Fuzhou City, Fujian Province, People’s Republic of China.
authors.forename: L-F
authors.initials: LF
authors.lastname: Ke
authors.forename: Z-H
authors.initials: ZH
authors.lastname: Wang
authors.forename: L-H
authors.initials: LH
authors.lastname: Huang
authors.forename: H-H
authors.initials: HH
authors.lastname: Xie
authors.forename: Feng-Hua
authors.initials: FH
authors.lastname: Lan
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters