Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

F. Sperb-Ludwig, T. Alegra, R. V. Velho, N. Ludwig, C. A. Kim, F. Kok, J. P. Kitajima, E. Van Meel, S. Kornfeld, M. G. Burin, I. V.D. Schwartz

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Mucolipidosis II and III alpha/beta (ML II/III alpha/beta) are rare autosomal recessive lysosomal storage diseases that are caused by a deficiency of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme responsible for the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. A Brazilian patient suspected of having a very mild ML III was investigated using whole next-generation sequencing (NGS). Two mutations in the GNPTAB gene were detected and confirmed to be in trans status by parental analysis: c.1208T>C (p.Ile403Thr), previously reported as being pathogenic, and the novel mutation c.1723G>A (p.Gly575Arg). This study demonstrates the effectiveness of using whole NGS for the molecular diagnosis of very mild ML III alpha/beta patients.

Original languageEnglish
Pages (from-to)34-37
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume2
DOIs
StatePublished - Mar 2015

Keywords

  • Molecular diagnosis
  • Mucolipidosis II/III alpha/beta
  • Whole exome sequencing

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