A compound heterozygote case of isolated sulfite oxidase deficiency.
Fiche publication
Date publication
septembre 2017
Journal
Molecular genetics and metabolism reports
Auteurs
Membres identifiés du Cancéropôle Est :
Dr GUERIN Eric
Tous les auteurs :
Brumaru D, Guerin E, Voegeli AC, Eyer D, Maitre M
Lien Pubmed
Résumé
We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood concentrations and undetectable sulfite oxidase activity in his cultured fibroblasts. Both mutations are not reported yet. The clinical presentation was typical and severe, with generalized status epilepticus and premature death.
Mots clés
Compound heterozygote, Fibroblasts, Missense mutation, Point mutation, SUOX, sulfite oxidase, Sulfite oxidase activity, Transition, Transversion
Référence
Mol Genet Metab Rep. 2017 Sep;12:99-102