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Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Oct; Vol. 164A (10), pp. 2627-32. Date of Electronic Publication: 2014 Jul 08. - Publication Year :
- 2014
-
Abstract
- 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.<br /> (© 2014 Wiley Periodicals, Inc.)
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 164A
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 25044788
- Full Text :
- https://doi.org/10.1002/ajmg.a.36667