Mutational analysis of the HGO gene in Finnish alkaptonuria patients

• Published in: Journal of medical genetics Vol. 36; no. 12; pp. 922 - 923
• Main Authors: de Bernabé, Daniel Beltrán-Valero, Peterson, Pärt, Luopajärvi, Kristiina, Matintalo, Pirjo, Alho, Antti, Konttinen, Yrjö, Krohn, Kai, de Córdoba, Santiago Rodríguez, Ranki, Annamari
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-12-1999; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: 2-dioxygenase; alkaptonuria; Alkaptonuria - ethnology; Alkaptonuria - genetics; Amino acids; Aminoacid disorders; Biological and medical sciences; Chromosomes; Dioxygenases; DNA Mutational Analysis; Enzymes; Errors of metabolism; Finland; Haplotypes; Homogentisate 1,2-Dioxygenase; homogentisate-1; Humans; Medical sciences; Metabolic diseases; Mutation; Oxidation; Oxygenases - genetics; Patients; Polymorphism; Polymorphism, Genetic; Polypeptides; Short Report; Urine; Finland; Human; Skin disease; Pigmentation disorder; Enzyme; Family study; Pathogenesis; Diseases of the osteoarticular system; Metabolic diseases; Enzymopathy; Genetic determinism; Homogentisate 1,2-dioxygenase; Genetic disease; Alcaptonuria; Gene; Finnish; Oxidoreductases; Mutation; Aminoacid disorder; Aminoaciduria
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg.36.12.922

Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene (HGO). So far 17 mutations have been characterised in AKU patients of different ethnic origin. We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. The three novel AKU mutations are most likely specific for the Finnish population and have originated recently.