Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

Raul E. Piña-Aguilar, Gerardo R. Zaragoza-Arévalo, Isabella Rau, Andreas Gal, Miguel A. Alcántara-Ortigoza, Mónica S. López-Martínez, Yuritzi Santillán-Hernández*

*Corresponding author for this work

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

We report a Mexican girl showing the full blown clinical picture of mucopolysaccharidosis type II (MPSII). Iduronate-2-sulfatase (IDS) activity was low and she carried a heterozygous de novo c.1327C>T transition in exon 9, that changes codon 443 for a premature stop (TGA; p.Arg443*). Analysis of X-chromosome inactivation in androgen receptor (AR) locus showed a highly skewed ratio of 92:8 suggesting a functional hemizygosity with dominant expression of the mutant IDS and explaining the disease manifestation. This is one of the rare cases of females affected by MPSII due to the combined effect of a skewed X-chromosome inactivation and a de novo IDS mutation. We recommend that clinicians should consider the diagnosis of MPSII even in a girl without positive family history for this condition.

Original languageEnglish
Pages (from-to)159-162
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume56
Issue number3
Early online date8 Dec 2012
DOIs
Publication statusPublished - Mar 2013
Event12th International Symposium on MPS and Related Diseases - Noordwijkerhout, Netherlands
Duration: 28 Jun 20121 Jul 2012

Keywords

  • Elaprase®
  • Hunter syndrome
  • Iduronate-2-sulfatase
  • Mexico
  • MPSII
  • X-linked disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Piña-Aguilar, R. E., Zaragoza-Arévalo, G. R., Rau, I., Gal, A., Alcántara-Ortigoza, M. A., López-Martínez, M. S., & Santillán-Hernández, Y. (2013). Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation. European Journal of Medical Genetics, 56(3), 159-162. https://doi.org/10.1016/j.ejmg.2012.11.006