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"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype
Daniela V Luquetti1, Anne V Hing, Mark J Rieder
1Department of Pediatrics, University of Washington, Seattle, WA, USA. daniela.luquetti@seattlechildrens.org
American Journal of Medical Genetics. Part A
|December 15, 2012
Summary
Heterozygous mutations in the EFTUD2 gene cause Mandibulofacial dysostosis with microcephaly. This study expands the known features of this rare condition, including epibulbar dermoids and zygomatic arch clefting.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Mandibulofacial dysostosis with microcephaly (MFDWC) is a rare sporadic craniofacial condition.
- Previous studies identified heterozygous mutations in the EFTUD2 gene in affected individuals.
Purpose of the Study:
- To present clinical and radiographic features of three additional patients with de novo heterozygous mutations in EFTUD2.
- To expand the understanding of the phenotypic spectrum associated with EFTUD2 mutations.
Main Methods:
- Clinical and radiographic evaluation of three patients with de novo heterozygous EFTUD2 mutations.
- Review of existing literature on MFDWC and EFTUD2 mutations.
Main Results:
- The three new cases showed overlapping features with previously reported MFDWC, including choanal atresia, cleft palate, maxillary and mandibular hypoplasia, and microtia.
- Microcephaly was present in two of three patients, with milder cognitive impairment in those with head circumference proportional to height.
- The phenotypic spectrum was expanded to include epibulbar dermoids and zygomatic arch clefting.
Conclusions:
- EFTUD2 mutations are associated with a variable phenotype, and microcephaly is not always present.
- Craniofacial computed tomography may aid in diagnosing zygomatic arch clefting.
- Consider EFTUD2 testing for individuals with features of oculo-auriculo-vertebral spectrum, bilateral microtia, or atypical CHARGE syndrome without CHD7 mutations, especially with zygomatic arch clefting.
