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

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 pat...

Full description

Saved in:
Bibliographic Details
Published in:Cold Spring Harbor molecular case studies 2022-06, Vol.8 (4), p.a006206
Main Authors: Kohailan, Muhammad, Al-Saei, Omayma, Padmajeya, Sujitha, Aamer, Waleed, Elbashir, Najwa, Al-Shabeeb Akil, Ammira, Kamboh, Abdul-Rauf, Fakhro, Khalid
Format: Article
Language:English
Subjects:
Anomalies
Case reports
Dysostosis
Gene expression
Gene sequencing
Genetic disorders
Genomes
Hypoplasia
Microencephaly
Research Report
Whole genome sequencing
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2373-2865
2373-2873
DOI:10.1101/mcs.a006206