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Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene

G K Cury1, U Matte, O Artigalás

  • 1Post Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Brazil. gcury1@hotmail.com

Gene
|April 10, 2013
PubMed
Abstract

Insights

This study identified nine GNPTAB gene variations in Brazilian patients with Mucolipidosis II and III alpha/beta, with exon 19 mutations being most frequent. These findings aid in diagnosing rare lysosomal storage diseases.

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases.
  • These conditions stem from pathogenic variations in the GNPTAB gene, which encodes subunits of the phosphotransferase enzyme.
  • This enzyme is crucial for synthesizing the mannose-6-phosphate marker, essential for lysosomal enzyme targeting.

Purpose of the Study:

  • To identify sequence variations in the GNPTAB gene among Brazilian patients diagnosed with MLII and MLIII alpha/beta.
  • To contribute to a better understanding of the genetic basis of these rare lysosomal storage diseases in the Brazilian population.

Main Methods:

  • Genomic DNA (gDNA) was extracted from the peripheral blood of patients diagnosed with MLII/III.
  • The GNPTAB gene was sequenced to identify genetic variations.
  • cDNA analysis was used to confirm the deleterious effect of specific mutations on splicing.

Main Results:

  • Twelve unrelated Brazilian patients with MLII/III were analyzed.
  • Nine distinct causal sequence variations in the GNPTAB gene were identified.
  • The mutation c.3503_3504delTC in exon 19 was the most prevalent pathogenic variation, found in 11 out of 24 alleles.

Conclusions:

  • The GNPTAB gene exhibits significant allelic heterogeneity in Brazilian patients with MLII and MLIII.
  • Genetic screening for MLII and MLIII in Brazil should prioritize mutations in exon 19 of the GNPTAB gene.
  • Further investigations are planned for patients with unidentified pathogenic mutations.

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