Title |
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study
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Published in |
Orphanet Journal of Rare Diseases, June 2013
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DOI | 10.1186/1750-1172-8-92 |
Pubmed ID | |
Authors |
Encarna Guillén-Navarro, María Rosario Domingo-Jiménez, Carlos Alcalde-Martín, Ramón Cancho-Candela, María Luz Couce, Enrique Galán-Gómez, Olga Alonso-Luengo |
Abstract |
Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and patients' self-reported description of signs and symptoms. So although it is rare in heterozygous carriers, investigations in other types of inherited X-linked disorders suggest that some clinical manifestations may be a possibility. The aim of this study was to evaluate the clinical pattern in female carriers of MPS II and to determine whether clinical symptoms were associated with the X-chromosome inactivation (XCI) pattern and age. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 17% |
Spain | 1 | 17% |
United States | 1 | 17% |
Unknown | 3 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 83% |
Scientists | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 2% |
Spain | 1 | 2% |
United States | 1 | 2% |
Unknown | 62 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 9 | 14% |
Student > Bachelor | 9 | 14% |
Researcher | 6 | 9% |
Other | 6 | 9% |
Student > Doctoral Student | 5 | 8% |
Other | 15 | 23% |
Unknown | 15 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 19 | 29% |
Biochemistry, Genetics and Molecular Biology | 12 | 18% |
Agricultural and Biological Sciences | 3 | 5% |
Computer Science | 2 | 3% |
Psychology | 2 | 3% |
Other | 9 | 14% |
Unknown | 18 | 28% |