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Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.
Cleft Palate Craniofac J. 2019 05; 56(5):674-678.CP

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.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Lacour JC
1 Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA.
McBride L
2 Department of Neurosurgery, Children's Hospital, New Orleans, LA, USA. 3 Craniofacial Team, Children's Hospital, New Orleans, LA, USA.
St Hilaire H
3 Craniofacial Team, Children's Hospital, New Orleans, LA, USA. 4 Division of Plastic and Reconstructive Surgery, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.
Mundinger GS
3 Craniofacial Team, Children's Hospital, New Orleans, LA, USA. 4 Division of Plastic and Reconstructive Surgery, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.
Moses M
3 Craniofacial Team, Children's Hospital, New Orleans, LA, USA. 4 Division of Plastic and Reconstructive Surgery, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.
Koon J
5 Department of Emergency Medicine, Ochsner Health System, Slidell, LA, USA.
Torres JI
3 Craniofacial Team, Children's Hospital, New Orleans, LA, USA. 6 Department of Otolaryngology, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.
Lacassie Y
3 Craniofacial Team, Children's Hospital, New Orleans, LA, USA. 7 Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA.

MeSH

HumansMandibulofacial DysostosisMicrocephalyMutationPeptide Elongation FactorsPhenotypeRibonucleoprotein, U5 Small Nuclear

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30343593

Citation

Lacour, Jennie C., et al. "Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 56, no. 5, 2019, pp. 674-678.
Lacour JC, McBride L, St Hilaire H, et al. Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses. Cleft Palate Craniofac J. 2019;56(5):674-678.
Lacour, J. C., McBride, L., St Hilaire, H., Mundinger, G. S., Moses, M., Koon, J., Torres, J. I., & Lacassie, Y. (2019). Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 56(5), 674-678. https://doi.org/10.1177/1055665618806379
Lacour JC, et al. Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses. Cleft Palate Craniofac J. 2019;56(5):674-678. PubMed PMID: 30343593.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses. AU - Lacour,Jennie C, AU - McBride,Lori, AU - St Hilaire,Hugo, AU - Mundinger,Gerhard S, AU - Moses,Michael, AU - Koon,Jessica, AU - Torres,Jairo I, AU - Lacassie,Yves, Y1 - 2018/10/21/ PY - 2018/10/23/pubmed PY - 2020/2/28/medline PY - 2018/10/23/entrez KW - computerized tomography KW - craniofacial morphology KW - dysmorphology KW - etiology KW - facial morphology KW - genetics KW - hearing loss KW - hemifacial microsomia KW - mutation KW - pediatrics KW - psychiatric conditions KW - synostosis SP - 674 EP - 678 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac J VL - 56 IS - 5 N2 - 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. SN - 1545-1569 UR - https://www.unboundmedicine.com/medline/citation/30343593/Novel_De_Novo_EFTUD2_Mutations_in_2_Cases_With_MFDM_Initially_Suspected_to_Have_Alternative_Craniofacial_Diagnoses_ DB - PRIME DP - Unbound Medicine ER -