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Background  Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme  N -acetylgalactosamine-6-sulfate sulfatase ( GALNS).  The purpose of this study was to analyze the  GALNS  mutations and the haplotypes associated.    Methods  Mutation screening of the  GALNS  gene was performed by direct sequence analysis using DNA samples from 15 unrelated Tunisian MPS IVA patients. We also analyzed the haplotypes associated with the novel mutation and with the other reported  GALNS  mutations.    Results  We have identified an unreported missense mutation p.D288G (c.863A > G) in one patient, the most frequently c.120 + 1G > A (IVS1 + 1G > A) mutation in eleven MPS IVA patients and three previously reported mutations p.G66R, p.A85T and p.R386C on the other MPS IVA patients. All the studied patients were homozygous for these identified mutations. Bioinformatics analysis predicted the novel mutation as being probably pathogenic. These findings with the unobserved p.D288G mutation in controls subjects, suggested that it is a disease-causing mutation, which was correlated with the severe phenotype observed in the patients. We have found that the two  GALNS  unreported and reported mutations, respectively p.D288G and p.R386C, were associated with a common and specific haplotype.    Conclusion  Our results were in agreement with previous reports from Tunisia, suggesting, on one hand the genotype/phenotype correlations in MPS IVA patients and the other hand the haplotype analyses were useful for determination of mutation origin in Tunisian population.

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation