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Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):425-9. doi: 10.1684/abc.2011.0593.

[Morquio A disease: clinical and molecular study of Tunisian patients].

[Article in French]

Author information

1
Laboratoire de biochimie, CHU Farhat Hached, Sousse, Tunisie. khedhirisouhir@yahoo.fr

Abstract

Type IVA mucopolysaccharidosis or Morquio A disease is a lysosomal storage disease, autosomal recessive, caused by deficiency of the N-acetylgalactosamine-6-sulfate sulfatase or GALNS. The severe phenotype is characterized by a severe skeletal dysplasia without any mental retardation. The aim of this study was to propose a strategy of molecular and prenatal diagnosis of this pathology. A molecular study was carried out on 7 patients MPS IVA issued from 5 unrelated families recruited from different Tunisian regions. All the patients were offspring of consanguineous marriages. The clinical and biologic study confirmed the diagnosis of MPS IVA within the 7 studied patients. Three GALNS mutations were identified by molecular analysis: IVS1+1G>A, G66R and A85T. The unions between Tunisian relatives are important and increase the Morquio A incidence in Tunisia. The identification of GALNS mutations in the Tunisian population permits better understanding of the Morquio A phenotype, a reliable genetic counselling and a molecular prenatal diagnosis to Tunisian at-risk relatives.

PMID:
21896407
DOI:
10.1684/abc.2011.0593
[Indexed for MEDLINE]
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