Clinical utility gene card for: hypophosphatasia - update 2013

Affiliations

¹ 1] Unité de Pathologie Cellulaire et Génétique UPRES-EA2493, Faculté de Médecine Paris Ile de France Ouest PRES Universud Paris, University of Versailles Saint Quentin en Yvelines, Versailles, France [2] Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, Paris, France.
² Funktionsbereich Pädiatrische Rheumatologie, Immunologie und Osteologie, Kinderklinik und Poliklinik Universität Würzburg, Würzburg, Germany.
³ 1] Faculty of Dentistry, University of Strasbourg, Strasbourg, France [2] Reference Centre for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-Dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, France [3] Institute of Genetics and Molecular and Cellular Biology (IGBMC), Inserm U964, CNRS-UdS UMR7104, Illkirch, France.
⁴ Vivantes Klinikum im Friedrichshain, Department of Pediatrics, Clinic for Pediatric and Adolescent Medicine, Berlin, Germany.
⁵ U781 et Département de Génétique, Centre de Référence des Maladies Osseuses Constitutionnelles, Hopital Necker-Enfant Malades, Paris, France.

Etienne Mornet et al. Eur J Hum Genet. 2014 Apr.

. 2014 Apr;22(4).

doi: 10.1038/ejhg.2013.177. Epub 2013 Aug 7.

¹ 1] Unité de Pathologie Cellulaire et Génétique UPRES-EA2493, Faculté de Médecine Paris Ile de France Ouest PRES Universud Paris, University of Versailles Saint Quentin en Yvelines, Versailles, France [2] Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, Paris, France.
² Funktionsbereich Pädiatrische Rheumatologie, Immunologie und Osteologie, Kinderklinik und Poliklinik Universität Würzburg, Würzburg, Germany.
³ 1] Faculty of Dentistry, University of Strasbourg, Strasbourg, France [2] Reference Centre for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-Dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, France [3] Institute of Genetics and Molecular and Cellular Biology (IGBMC), Inserm U964, CNRS-UdS UMR7104, Illkirch, France.
⁴ Vivantes Klinikum im Friedrichshain, Department of Pediatrics, Clinic for Pediatric and Adolescent Medicine, Berlin, Germany.
⁵ U781 et Département de Génétique, Centre de Référence des Maladies Osseuses Constitutionnelles, Hopital Necker-Enfant Malades, Paris, France.

No abstract available

References

1. Zurutuza L, Muller F, Gibrat JF, et al. Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet. 1999;8:1039–1046. - PubMed
1. Muller HL, Yamazaki M, Michigami T, et al. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab. 2000;85:743–747. - PubMed
1. Lia-Baldini AS, Brun-Heath I, Carrion C, et al. A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localisation of the wild-type protein. Hum Genet. 2008;123:429–432. - PubMed
1. Lia-Baldini AS, Muller F, Taillandier A, et al. A molecular approach to dominance in hypophosphatasia. Hum Genet. 2001;109:99–108. - PubMed
1. Fauvert D, Brun-Heath I, Lia-Baldini AS, et al. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 2009;10:51. - PMC - PubMed