A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

Abstract Background 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. Case presentat...

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Bibliographic Details
Main Authors: Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Medical Genetics
Subjects:
EFTUD2
Mandibulofacial dysostosis with microcephaly
de novo
Synonymous splice variant
Exonic splice enhancer variant
Whole-exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-020-01121-y

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http://link.springer.com/article/10.1186/s12881-020-01121-y

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