B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

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

https://www.ncbi.nlm.nih.gov/pubmed/28771243

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