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A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
Am J Med Genet A 2005; 132A(4):369-75AJ

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 alpha/beta 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.

Authors+Show Affiliations

Department of Internal Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15633164

Citation

Steet, Richard A., et al. "A Splicing Mutation in the Alpha/beta GlcNAc-1-phosphotransferase Gene Results in an Adult Onset Form of Mucolipidosis III Associated With Sensory Neuropathy and Cardiomyopathy." American Journal of Medical Genetics. Part A, vol. 132A, no. 4, 2005, pp. 369-75.
Steet RA, Hullin R, Kudo M, et al. A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A. 2005;132A(4):369-75.
Steet, R. A., Hullin, R., Kudo, M., Martinelli, M., Bosshard, N. U., Schaffner, T., ... Steinmann, B. (2005). A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. American Journal of Medical Genetics. Part A, 132A(4), pp. 369-75.
Steet RA, et al. A Splicing Mutation in the Alpha/beta GlcNAc-1-phosphotransferase Gene Results in an Adult Onset Form of Mucolipidosis III Associated With Sensory Neuropathy and Cardiomyopathy. Am J Med Genet A. 2005 Feb 1;132A(4):369-75. PubMed PMID: 15633164.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. AU - Steet,Richard A, AU - Hullin,Roger, AU - Kudo,Mariko, AU - Martinelli,Michele, AU - Bosshard,Nils U, AU - Schaffner,Thomas, AU - Kornfeld,Stuart, AU - Steinmann,Beat, PY - 2005/1/6/pubmed PY - 2005/4/19/medline PY - 2005/1/6/entrez SP - 369 EP - 75 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 132A IS - 4 N2 - 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 alpha/beta 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. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15633164/A_splicing_mutation_in_the_alpha/beta_GlcNAc-1-phosphotransferase_gene_results_in_an_adult_onset_form_of_mucolipidosis_III_associated_with_sensory_neuropathy_and_cardiomyopathy L2 - https://doi.org/10.1002/ajmg.a.30498 DB - PRIME DP - Unbound Medicine ER -