A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes
pmid: 18481121
A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes
X-linked adrenoleukodystrophy and hemophilia A are two distinct, potentially devastating, genetic diseases whose corresponding genes are located in close proximity on the X chromosome. Here we report a family with members affected with both conditions, only the second such family ever reported. Although a structural genomic rearrangement involving both genes was initially predicted to underlie this extremely rare phenotype, genotyping revealed the unlikely occurrence of two individual point mutations. Given the impact of this result on the heritability of the two disorders within the family, this case illustrates the significance of performing detailed molecular analysis in patients with multiple genetic disorders.
- University of Mary United States
- University of Washington United States
- University of California, Los Angeles United States
Male, Chromosomes, Human, X, Heterozygote, Factor VIII, Middle Aged, Hemophilia A, ATP Binding Cassette Transporter, Subfamily D, Member 1, Pedigree, Young Adult, Genes, X-Linked, Humans, Point Mutation, ATP-Binding Cassette Transporters, Female, Adrenoleukodystrophy
Male, Chromosomes, Human, X, Heterozygote, Factor VIII, Middle Aged, Hemophilia A, ATP Binding Cassette Transporter, Subfamily D, Member 1, Pedigree, Young Adult, Genes, X-Linked, Humans, Point Mutation, ATP-Binding Cassette Transporters, Female, Adrenoleukodystrophy
51 Research products, page 1 of 6
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
chevron_left - 1
- 2
- 3
- 4
- 5
chevron_right
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).1 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
