{Reference Type}: Case Reports
{Title}: A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
{Author}: Kohailan M;Al-Saei O;Padmajeya S;Aamer W;Elbashir N;Al-Shabeeb Akil A;Kamboh AR;Fakhro K;
{Journal}: Cold Spring Harb Mol Case Stud
{Volume}: 8
{Issue}: 4
{Year}: 06 2022
暂无{DOI}: 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.