A splicing mutation in the α/β GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy

Richard A. Steet, Roger Hullin, Mariko Kudo, Michele Martinelli, Nils U. Bosshard, Thomas Schaffner, Stuart Kornfeld, Beat Steinmann

Research output: Contribution to journalArticlepeer-review

28 Scopus citations

Abstract

A 47-year-old female who presented with a dilated cardiomyopathy and mild neuropathy was found to have pseudoHurler polydystrophy (mucolipidosis III). The serum lysosomal enzymes were strikingly elevated and GlcNAc-1- phosphotransferase activity in the patient's fibroblasts was 3% of normal. Sequence analysis of the patient's genomic DNA revealed a homozygous mutation of the last nucleotide of the 135-bp exon 7 of the phosphotransferase gene encoding the α/β subunits, resulting in aberrant splicing and skipping of this exon. Remarkably, none of the skeletal and connective tissue anomalies characteristic of the disease were present. This case is the first example of mucolipidosis III presenting in an adult patient and further broadens the clinical spectrum of the disease.

Original languageEnglish
Pages (from-to)369-375
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume132 A
Issue number4
DOIs
StatePublished - Feb 1 2005

Keywords

  • Cardiomyopathy
  • GlcNAc-1-phosphotransferase
  • Lysosomal storage disorder
  • Mucolipidosis III

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