Pregled bibliografske jedinice broj: 1170593
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II // Clinical Genetics, 91 (2017), 5; 787-796 doi:10.1111/cge.12927 (međunarodna recenzija, članak, znanstveni)
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Naslov
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and
Serbian patients with mucopolysaccharidosis type II
Autori
Dvorakova, L. ; Vlaskova, H. ; Sarajlija, A. ; Ramadza, D. P. ; Poupetova, H. ; Hruba, E. ; Hlavata, A. ; Bzduch, V. ; Peskova, K. ; Storkanova, G. ; Kecman, B. ; Djordjevic, M. ; Baric, I. ; Fumic, K. ; Barisic, I. ; Reboun, M. ; Kulhanek, J. ; Zeman, J. ; Magner, M.
Izvornik
Clinical Genetics (0009-9163) 91
(2017), 5;
787-796
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
Hunter syndrome ; MPS II ; Slavic origin ; genotype-phenotype correlation ; mucopolysaccharidosis type II.
Sažetak
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69, 223 (Serbia) to 1:192, 626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy. Cognitive functions were normal in 10 patients. Four, six and 24 patients had mild, moderate, and severe developmental delay, respectively, typically subsequent to developmental regression (59%). Residual enzyme activity showed no predictive value, and estimation of glycosaminoglycans (GAGs) had only limited importance for prognosis. Mutation analysis performed in 36 families led to the identification of 12 novel mutations, eight of which were small deletions/insertions. Large deletions/rearrangements and all but one small deletion/insertion led to a severe phenotype. This genotype-phenotype correlation was also identified in six cases with recurrent missense mutations. Based on patient genotype, the severity of the disease may be predicted with high probability in approximately half of MPS II patients.
Izvorni jezik
Engleski
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
