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Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation
Author(s) -
Lonardo Fortunato,
Di Natale Paola,
Lualdi Susanna,
Acquaviva Fabio,
Cuoco Cristina,
Scarano Francesca,
Maioli Marianna,
Pavone Luigi Michele,
Di Gregorio Grazia,
Filocamo Mirella,
Scarano Gioacchino
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36667
Subject(s) - mucopolysaccharidosis type ii , chromosomal translocation , x inactivation , hunter syndrome , x chromosome , allele , genetics , skewed x inactivation , biology , mucopolysaccharidosis , phenotype , karyotype , mutation , chromosome , microbiology and biotechnology , disease , gene , medicine , enzyme replacement therapy , biochemistry
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. © 2014 Wiley Periodicals, Inc.