Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.
Familial X-chromosome inactivation (XCI) skewing was investigated in a family in which a female mucopolysaccharidosis type II (MPS II) (Hunter syndrome, an X-linked genetic disease) occurred. Among eight related females aged under 60 years from three generations who were tested, four revealed a non-random pattern of XCI. Detailed genetic analysis failed to find mutations in genes that were previously reported as important for the XCI process. Haplotype analysis excluded linkage of non-random XCI with genes localized on the X-chromosome. We propose that analysis of the XCI pattern should be taken into consideration when assessing risk factors for X-linked recessive genetic disorders.
Department of Molecular Biology, University of Gdańsk, Poland.
A
A
Kloska
J
J
Jakóbkiewicz-Banecka
A
A
Tylki-Szymańska
B
B
Czartoryska
G
G
Węgrzyn
D000328:Adult; D000368:Aged; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006025:Glycosaminoglycans / Q000652:urine; D006579:Heterozygote; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007223:Infant; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics* / Q000652:urine; D020125:Mutation, Missense; D010375:Pedigree; D049951:X Chromosome Inactivation / Q000235:genetics*
D006025:Glycosaminoglycans; D007066:Iduronate Sulfatase