Biopolym. Cell. 2016; 32(5):359-366.
Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene
1, 2Trofimova N. S., 1, 2Olkhovich N. V., 2Gorovenko N. G.
  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 type III or Sanfilippo syndrome (MIM # 252900) is a rare hereditary autosomal-recessive metabolic disorder, which occurs due to the deficiency of heparan-N-sulfatase enzyme (EC Aim. To identify the whole spectrum of mutations in SGSH gene in Ukrainian patients with MPS III A. Methods. RFLP-analysis, SSCP method, sequencing. Results. We have identified 100 % (42/42) mutant alleles of SGSH gene in 23 patients (two probands had siblings with identical genotypes) with MPS III A from 21 Ukrainian family. The range of mutations in SGSH gene in Ukrainian patients with MPS III A is represented with 7 known missence-mutations , R74C, R245H, T271M, E292K, S298P, E369K, N389K and 2 single nucleotide deletions, c.1080delC and c.1135delG. We identified three new mutations in the SGSH gene: a missence-mutation G149R,a deletion c.216delC, and a deletion of 27 bp TCC^348CTCctgccggcgctggaggccgagcccctcTGGGCCACC. Conclusions. The data obtained may be useful for molecular-genetic analysis of Ukrainian patients with MPS III A.
Keywords: mucopolysaccharidosis, Sanfilippo A syndrome, heparan-N-sulfatase


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