A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
Fiche publication
Date publication
septembre 2020
Journal
BMC medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak, Dr CARAPITO Raphaël
Tous les auteurs :
Jacob A, Pasquier J, Carapito R, Auradé F, Molitor A, Froguel P, Fakhro K, Halabi N, Viot G, Bahram S, Rafii A
Lien Pubmed
Résumé
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene.
Mots clés
Case report, EFTUD2, Exonic splice enhancer variant, Mandibulofacial dysostosis with microcephaly, Synonymous splice variant, Whole-exome sequencing, de novo
Référence
BMC Med. Genet.. 2020 Sep 17;21(1):182