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Am J Med Genet A. 2014 Oct;164A(10):2627-32. doi: 10.1002/ajmg.a.36667. Epub 2014 Jul 8.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

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U.O.C. di Genetica Medica, A.O.R.N. "G. Rummo", Benevento, Italy.


Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme, iduronate-2-sulfatase (IDS). Phenotypic expression of MPS II in female patients rarely occurs and may be the result of (i) structural abnormalities of the X chromosome, (ii) homozygosity for disease-causing mutations, or (iii) skewed X-chromosome inactivation, in which the normal IDS allele is preferentially inactivated and the abnormal IDS allele is active. We report here on a female patient with clinical MPS II manifestations, deficiency of IDS enzyme activity and a de novo balanced reciprocal X;9 translocation. As our patient has a skewed XCI pattern, but neither genomic IDS mutations nor abnormal IDS transcripts were detected, we speculate about the possible role of the chromosomal rearrangement in reducing the IDS translation efficiency.


X chromosome inactivation; X;autosome translocation; female Hunter syndrome; iduronate 2-sulfatase; mucopolysaccharidosis type II; skewed

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