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

Abstract

UNLABELLED:

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.

• Authors: S Khedhiri, L Chkioua, H Bouzidi, A Dandana, S Ferchichi, H Ben Turkia, A Miled, S Laradi
• Journal: Pathologie-biologie (Pathol Biol (Paris)) Vol. 60 Issue 3 Pg. 190-2 (Jun 2012) ISSN: 1768-3114 [Electronic] France
• PMID: 22078177 (Publication Type: Journal Article)
• Copyright: Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Chemical References

• RNA Splice Sites
• Chondroitinsulfatases
• GALNS protein, human

Topics

• Adult
• Base Sequence
• Chondroitinsulfatases (genetics)
• DNA Mutational Analysis
• Genetic Association Studies
• Humans
• Molecular Sequence Data
• Mucopolysaccharidosis IV (epidemiology, genetics)
• Mutation (physiology)
• Polymorphism, Genetic
• Polymorphism, Single-Stranded Conformational (physiology)
• RNA Splice Sites (genetics)
• Tunisia (epidemiology)
• Validation Studies as Topic
• Young Adult