Two novel multiple mutations in chinese patients with adrenoleukodystrophy.
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.
Ke
L-F
LF
Research Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Fuzhou City, Fujian Province, People’s Republic of China.
Wang
Z-H
ZH
Huang
L-H
LH
Xie
H-H
HH
Lan
Feng-Hua
FH
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*
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters