Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.
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.
Wang
Zhihong
Z
Research Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Fuzhou, PR China.
Ke
Longfeng
L
Yan
Aizhen
A
Zhu
Zhongyong
Z
Lan
Fenghua
F
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; D001483:Base Sequence; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters