Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses

Jennie C Lacour; Lori McBride; Hugo St Hilaire; Gerhard S Mundinger; Michael Moses; Jessica Koon; Jairo I Torres; Yves Lacassie

doi:10.1177/1055665618806379

Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses

Cleft Palate Craniofac J. 2019 May;56(5):674-678. doi: 10.1177/1055665618806379. Epub 2018 Oct 21.

Authors

Jennie C Lacour¹, Lori McBride^{2

3}, Hugo St Hilaire^{3

4}, Gerhard S Mundinger^{3

4}, Michael Moses^{3

4}, Jessica Koon⁵, Jairo I Torres^{3

6}, Yves Lacassie^{3

7}

Affiliations

¹ 1 Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA.
² 2 Department of Neurosurgery, Children's Hospital, New Orleans, LA, USA.
³ 3 Craniofacial Team, Children's Hospital, New Orleans, LA, USA.
⁴ 4 Division of Plastic and Reconstructive Surgery, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.
⁵ 5 Department of Emergency Medicine, Ochsner Health System, Slidell, LA, USA.
⁶ 6 Department of Otolaryngology, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.
⁷ 7 Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.

PMID: 30343593
DOI: 10.1177/1055665618806379

Abstract

We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene. Both cases were initially thought to have alternative disorders but were later correctly diagnosed through whole-exome sequencing. These cases expand upon our knowledge of the phenotypic spectrum in patients with MFDM, which will aid in defining the full phenotype of this disorder and increase awareness of this condition.

Keywords: computerized tomography; craniofacial morphology; dysmorphology; etiology; facial morphology; genetics; hearing loss; hemifacial microsomia; mutation; pediatrics; psychiatric conditions; synostosis.

Publication types

Case Reports

MeSH terms

Humans
Mandibulofacial Dysostosis* / genetics
Microcephaly
Mutation
Peptide Elongation Factors / genetics*
Phenotype
Ribonucleoprotein, U5 Small Nuclear / genetics*

Substances

EFTUD2 protein, human
Peptide Elongation Factors
Ribonucleoprotein, U5 Small Nuclear