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A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

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submitted on 2024-04-03, 07:41 and posted on 2024-04-23, 12:32 authored by Muhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, Waleed Aamer, Najwa Elbashir, Ammira Al-Shabeeb Akil, Abdul-Rauf Kamboh, Khalid Fakhro

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.

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Published in: Molecular Case Studies
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  • English


Cold Spring Harbor Laboratory

Publication Year

  • 2022

License statement

This Item is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License.

Institution affiliated with

  • Hamad Bin Khalifa University
  • College of Health and Life Sciences - HBKU
  • Sidra Medicine
  • Weill Cornell Medicine - Qatar

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