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

Fortunato Lonardo, Paola Di Natale, Susanna Lualdi, Fabio Acquaviva, Cristina Cuoco, Francesca Scarano, Marianna Maioli, Luigi Michele Pavone, Grazia Di Gregorio, Mirella Filocamo, Gioacchino Scarano

Research output: Contribution to journalArticlepeer-review


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 Xchromosome 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.

Original languageEnglish
Pages (from-to)2627-2632
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
Publication statusPublished - 2014


  • Female hunter syndrome
  • Iduronate 2-sulfatase
  • Mucopolysaccharidosis type II
  • Skewed
  • X chromosome inactivation
  • X;autosome translocation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)


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