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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Bibliographic Details
Published inBMC medical genetics Vol. 21; no. 1; pp. 1 - 182
Main Authors Jacob, Arthur, Pasquier, Jennifer, Carapito, Raphael, Auradé, Frédéric, Molitor, Anne, Froguel, Philippe, Fakhro, Khalid, Halabi, Najeeb, Viot, Géraldine, Bahram, Seiamak, Rafii, Arash
Format Journal Article
LanguageEnglish
Published London BioMed Central Ltd 17.09.2020
BioMed Central
BMC
Subjects
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
United States > US
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1471-2350
1471-2350
DOI:10.1186/s12881-020-01121-y