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Pathol Biol (Paris). 2012 Jun;60(3):190-2. doi: 10.1016/j.patbio.2011.03.001. Epub 2011 Nov 9.

Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.

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  • 1Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse, Tunisia. khedhirisouhir@yahoo.fr

Abstract

Mucopolysaccharidosis type IVA or Morquio A disease is an autosomal recessive disease resulting from a deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate-sulfatase, which hydrolyses N-acetylgalactosamine-6-sulfate and galactose-6-sulfate in glycosaminoglycans. Phenotypes in Morquio A disease vary from the classical form with severe bone dysplasia, heart valve involvement, corneal opacity, short trunk dwarfism and a life span of 20 to 30 years, to attenuated forms with normal life span, mild bone involvement and mild visceral organ involvement. Unlike the other forms of mucopolysaccharidoses, Morquio A disease is characterized by normal intelligence.

AIM OF THE STUDY:

The aims of this study were to determine if the novel GALNS anomalies IVS1+1G-A and G66R identified in Tunisia are mutations or polymorphisms.

PATIENTS AND METHODS:

This study was carried out on six Morquio A patients recruited from many regions of Tunisia. We have used SCCP, sequencing and enzymatic digestion.

RESULTS:

IVS1+1G-A and G66R were two deleterious mutations and not polymorphisms.

CONCLUSION:

Screening of mutations and polymorphisms in GALNS gene provide useful information on genotype/phenotype correlations. It should also facilitate more accurate genetic counselling of newly diagnosed cases and their family members.

Copyright © 2011 Elsevier Masson SAS. All rights reserved.

PMID:
22078177
[PubMed - indexed for MEDLINE]
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