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.
Fogel
Brent L
BL
Department of Neurology, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, CA 90095, USA. bfogel@ucla.edu
Young
Pari
P
Thompson
Arthur R
AR
Perlman
Susan
S
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000150:complications* / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked; D006467:Hemophilia A / Q000150:complications* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D055815:Young Adult
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D005169:Factor VIII