Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies—a case study of 14 patients in 11 families - 01/01/05
pages | 9 |
Iconographies | 4 |
Vidéos | 0 |
Autres | 0 |
Abstract |
Objectives. - To confirm alkaptonuria and ochronotic arthropathy diagnosis by mutation screening of the homogentisate 1,2-dioxygenase (HGD) gene. Try to establish a genotype-phenotype correlation in the five subjects with a molecular study on HGD gene.
Methods. - We report 14 alkaptonuria cases (10 men and four women) in 11 Algerian families. Consanguineous matings were evidenced in only three families (F=1/16). Molecular analysis was performed by sequencing genomic DNA in order to identify the mutations of the HGD gene.
Results. - Alkaptonuria was always confirmed by urinary homogentisic acid determination. Four different mutations of the HGD gene were found: an homozygous missense mutation, Serine189Isoleucine in two sisters with a mild phenotype; an homozygous splice site mutation (IVS1-1G>A) in a man with a severe phenotype (death at 61 years old from renal failure); a silent mutation, Alanine470Alanine at the heterozygous state in a man with a mild phenotype; a 'G' deletion at the position c.819 which causes a frameshift after Gly217(Gly217fs) that runs into a stop codon at c. 850. This mutation is novel and was found in heterozygosis in a woman with a mild phenotype.
Conclusions. - The two homozygous mutations were associated, respectively, with a severe and a mild phenotype but no genotype-phenotype correlation could be found.
Le texte complet de cet article est disponible en PDF.Keywords : Alkaptonuria, Homogentisate 1,2-dioxygenase, Homogentisic acid, Ochronosis, Ochronotic arthropathy
Plan
Vol 73 - N° 3
P. 284-292 - mai 2006 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’achat d’article à l’unité est indisponible à l’heure actuelle.
Déjà abonné à cette revue ?