How to Cite this Article: Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML. 2012. “Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype. Am J Med Genet Part A 161A:108–113.
“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype†
Article first published online: 14 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 108–113, January 2013
How to Cite
Luquetti, D. V., Hing, A. V., Rieder, M. J., Nickerson, D. A., Turner, E. H., Smith, J., Park, S. and Cunningham, M. L. (2013), “Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype. Am. J. Med. Genet., 161: 108–113. doi: 10.1002/ajmg.a.35696
- Issue published online: 22 DEC 2012
- Article first published online: 14 DEC 2012
- Manuscript Accepted: 3 SEP 2012
- Manuscript Received: 25 JUN 2012
- Jean Renny Endowment for Craniofacial Research
- National Institute on Deafness and Other Communication Disorders. Grant Number: K99DC011282
- National Human Genome Research Institute. Grant Number: HG005608
- mandibulofacial dysostosis;
- craniofacial development;
- epibulbar dermoid;
- craniofacial microsomia;
- oculo-auriculo-vertebral spectrum (OAVS);
- choanal atresia
Heterozygous mutations in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536). We present clinical and radiographic features of three additional patients with de novo heterozygous mutations in EFTUD2. Although clinical features overlap with findings of the original report (choanal atresia, cleft palate, maxillary and mandibular hypoplasia, and microtia), microcephaly was present in two of three patients and cognitive impairment was milder in those with head circumference proportional to height. Our cases expand the phenotypic spectrum to include epibulbar dermoids and zygomatic arch clefting. We suggest that craniofacial computed tomography studies to assess cleft of zygomatic arch may assist in making this diagnosis. We recommend consideration of EFTUD2 testing in individuals with features of oculo-auriculo-vertebral spectrum and bilateral microtia, or individuals with atypical CHARGE syndrome who do not have a CHD7 mutation, particularly those with a zygomatic arch cleft. The absence of microcephaly in one patient indicates that it is a highly variable phenotypic feature. © 2012 Wiley Periodicals, Inc.