Fiche publication
Date publication
mars 2026
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Mr ALIOUA Abdelmalek
Tous les auteurs :
Caravello G, Jiménez-Armijo A, Kawczynski M, Rey T, ,Antin M, Roth A, Lamouche JB, Gouronc A, Alioua A, Schluth-Bolard C, Bloch-Zupan A
Lien Pubmed
Résumé
Variants in the dentin sialophosphoprotein () gene are associated with dentin dysplasia type II (DD-II; OMIM # 125420) and dentinogenesis imperfecta (DI) types II (OMIM # 125490) and III (OMIM # 125500). encodes a precursor protein cleaved into three dentin matrix proteins: dentin sialoprotein (DSP), dentin phosphoprotein/phosphophoryn (DPP) and dentin glycoprotein (DGP). Exon 5 contains over 200 tandem 9-base pair repeats (DSS domain), complicating sequencing with standard methods.
Mots clés
Dentistry, Genetic Diseases, Inborn, Genetics, Medical, Molecular Diagnostic Techniques, Nanopore Sequencing
Référence
J Med Genet. 2026 03 12;:
