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

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. We present the first case of MFDM...

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Veröffentlicht in:	BMC medical genetics 2020-09, Vol.21 (1), p.1-182, Article 182
Hauptverfasser:	Jacob, Arthur, Pasquier, Jennifer, Carapito, Raphael, Auradé, Frédéric, Molitor, Anne, Froguel, Philippe, Fakhro, Khalid, Halabi, Najeeb, Viot, Géraldine, Bahram, Seiamak, Rafii, Arash
Format:	Artikel
Sprache:	eng
Schlagworte:	Autosomal dominant inheritance Case Report Case reports Codons Craniofacial dysostosis de novo Deoxyribonucleic acid Disease DNA Dysostosis Ears & hearing EFTUD2 Exon skipping Exonic splice enhancer variant Genes Genetic aspects Genetics Genomes Hearing loss Karyotypes Life Sciences Mandibulofacial dysostosis with microcephaly Microcephaly Microencephaly Nonsense mutation Parents & parenting Phenotypes Proteins Splicing Stop codon Synonymous splice variant Whole-exome sequencing
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Zusammenfassung:	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. We present the first case of MFDM caused by a synonymous variant disrupting the donor splice site, leading to exon skipping.
ISSN:	1471-2350 1471-2350
DOI:	10.1186/s12881-020-01121-y