Chapter title |
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II
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Chapter number | 535 |
Book title |
JIMD Reports, Volume 33
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Published in |
JIMD Reports, January 2016
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DOI | 10.1007/8904_2016_535 |
Pubmed ID | |
Book ISBNs |
978-3-66-255011-3, 978-3-66-255012-0
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Authors |
Camelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, Ioana Nascu, Eva Kiss, Carmencita Lucia Denes, Paula Grigorescu-Sido, Alkhzouz, Camelia, Lazea, Cecilia, Bucerzan, Simona, Nascu, Ioana, Kiss, Eva, Denes, Carmencita Lucia, Grigorescu-Sido, Paula |
Abstract |
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation. 15 unrelated patients, with MPS II ranging from mild (4 subjects) to severe phenotype (11 subjects) aged 2 to 20 years, were evaluated clinically, cognitive development, enzyme assay and molecular analysis. The molecular analysis of the 15 unrelated Romanian MPS II patients has identified 15 different mutations (2 major genetic defects (13%) and 13 minor genetic defects (87%)): microdeletions and point mutations (missense, nonsense), seven of them described for the first time-deletion encompassing 3 to exon 7; c823G>T, pD275Y; c.1600A>C (pN534H); c.102_10delAG (p.D5Cfs*11); c.448_471del (p.P150_P157del); c.421delA (p.I141Yfs*72); and c.419-1G>C. The major genetic defects were correlated with a severe course of disease. This is the first study on the clinical and molecular characterization of the MPS II Romanian patients. This study supports the evidence of the mutational heterogeneity of the I2S gene as well as the difficulty to correlate genotype and phenotype in the patients with MPS II. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 18 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 3 | 17% |
Student > Bachelor | 3 | 17% |
Professor > Associate Professor | 3 | 17% |
Student > Ph. D. Student | 2 | 11% |
Researcher | 2 | 11% |
Other | 2 | 11% |
Unknown | 3 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 33% |
Biochemistry, Genetics and Molecular Biology | 2 | 11% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 6% |
Immunology and Microbiology | 1 | 6% |
Environmental Science | 1 | 6% |
Other | 0 | 0% |
Unknown | 7 | 39% |