Mutational analysis of the HGO gene in Finnish alkaptonuria patients

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...

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Bibliographic Details
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
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Summary:	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.
Bibliography:	istex:8F719684BD4CC3E54A9E3C43EAC7F21ED888B647 ark:/67375/NVC-FHWTR75P-G Dr Peterson local:jmedgenet;36/12/922 PMID:10594001 href:jmedgenet-36-922.pdf ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-2593 1468-6244
DOI:	10.1136/jmg.36.12.922