Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders

Kloska A, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Czartoryska B, Węgrzyn G. 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.