A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
Cold Spring Harb Mol Case Stud
; 8(4)2022 06.
Article
de En
| MEDLINE
| ID: mdl-35732499
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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Dysostose mandibulofaciale
/
Microcéphalie
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limites:
Female
/
Humans
Langue:
En
Journal:
Cold Spring Harb Mol Case Stud
Année:
2022
Type de document:
Article
Pays d'affiliation:
Qatar