title: [Morquio A disease: clinical and molecular study of Tunisian patients].
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.
authors: Laboratoire de biochimie, CHU Farhat Hached, Sousse, Tunisie. khedhirisouhir@yahoo.fr
authors: Souhir
authors: S
authors: Khedhiri
authors: Latifa
authors: L
authors: Chkioua
authors: Salima
authors: S
authors: Ferchichi
authors: Abdelhedi
authors: A
authors: Miled
authors: Sandrine
authors: S
authors: Laradi
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002811:Chondroitinsulfatases / Q000235:genetics*; D003241:Consanguinity; D005091:Exons; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis; D014416:Tunisia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D015415:Biomarkers; D002811:Chondroitinsulfatases; C102295:GALNS protein, human