A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
Open Access
- 22 June 2022
- journal article
- research article
- Published by Cold Spring Harbor Laboratory in Cold Spring Harbor Molecular Case Studies
- Vol. 8 (4), a006206
- https://doi.org/10.1101/mcs.a006206
Abstract
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM. Using whole-genome sequencing, we identified a de novo start-codon loss (c.3G > T) in the EFTUD2. We examined EFTUD2 expression in the patient by RNA sequencing and observed a notable functional consequence of the variant on gene expression in the patient. We identified a novel variant for the development of MFDM in humans. To the best of our knowledge, this is the first report of a start-codon loss in EFTUD2 associated with MFDM.Keywords
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