B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Fiche publication
Date publication
février 2018
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Mr DUFFOURD Yannis
Tous les auteurs :
Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Rivière JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M, Genevieve D
Lien Pubmed
Résumé
PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be associated with the syndrome.MethodsMolecular diagnosis involved whole-exome and gene-panel sequencing.
Mots clés
Bone and Bones, abnormalities, Craniosynostoses, diagnosis, Diagnosis, Differential, Genetic Association Studies, Genetic Predisposition to Disease, Glucuronosyltransferase, genetics, Humans, Mutation, Phenotype, Sequence Analysis, DNA, Skull, abnormalities, Syndrome, Ultrasonography, Prenatal, Whole Genome Sequencing
Référence
Genet Med. 2018 02;20(2):269-274