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Article

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

BMC medical genetics - 17 Sept 2020

Jacob Arthur, Pasquier Jennifer, Carapito Raphael, Auradé Frédéric, Molitor Anne, Froguel Philippe, Fakhro Khalid, Halabi Najeeb, Viot Géraldine, Bahram Seiamak, Rafii Arash

Abstract excerpt

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 PRESENTATION: Here, we investigate the case of a young girl with symptoms of MFDM and a normal karyotype. Whole-exome sequencing of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32943010
DOI: 10.1186/s12881-020-01121-y
PMCID: PMC7499997

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