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Article

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 - 1 Mar 2013

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 23232253
DOI: 10.1016/j.ejmg.2012.11.006

Genes

IDS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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