Biopolym. Cell. 2016; 32(6):442-449.
Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis I: identification of three new mutations in α-L-iduronidase gene
1, 2Trofimova N. S., 1, 2Olkhovich N. V.
  1. National Children's Specialized Hospital Okhmatdyt, Ministry of Health of Ukraine
    28/1, Chornovola Str., Kyiv, Ukraine, 01135
  2. State Institute of Genetic and Regenerative Medicine, NAMS of Ukraine
    67, Vyshhorodska Str., Kyiv, Ukraine, 04114


Mucopolysaccharidosis I (MPS I) is a rare hereditary autosomal-recessive metabolic disorder, which occurs due to the deficiency of the lysosomal enzyme α-L-iduronidase (IDUA; EC There are three clinical forms of MPS I: Hurler syndrome, MPS I H; MIM # 607014, ORPHA 93473, Hurler/Scheie syndrome, MPS I H/S; MIM # 607015, ORPHA 93476, Scheie syndrome, MPS I S; MIM # 607016, ORPHA 93474. Aim. To identify the spectrum of mutations in the IDUA gene in Ukrainian patients with MPS I. Methods. RFLP-analysis, automated sequencing. Results. We have identified 100 % (34/34) mutant alleles of the IDUA gene among 18 Ukrainian patients (one proband had a sibling with the identical genotype) with MPS I from 17 families. The spectrum of mutations in the IDUA gene in Ukrainian patients with MPS I is represented by six known missence mutations: p.Q70*, p.W402*, p.A75T, p.A327P, p.P533L, p.S633I; two deletions: c.1398delC and c.46_57del_12, one insertion: c.889_899_ins_12, and one mutation in the splicing zone IVS11ds+5G–A. Three new missence mutations were revealed by us in the IDUA gene: p.N372S, p.Q563P and p.S633*. Conclusions. Our results may be used for planning the most reasonable algorithm of the molecular-genetic analysis of Ukrainian patients with MPS I.
Keywords: mucopolysaccharidosis, Hurler syndrome, Scheie syndrome, α-L-iduronidase


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