Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Jan;161A(1):108-13.
doi: 10.1002/ajmg.a.35696. Epub 2012 Dec 14.

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype

Daniela V Luquetti  1 , Anne V Hing, Mark J Rieder, Deborah A Nickerson, Emily H Turner, Joshua Smith, Sarah Park, Michael L Cunningham
Affiliations

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype

Daniela V Luquetti et al. Am J Med Genet A. 2013 Jan.

Abstract

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Photographs of Patients 1 and 3 showing frontal and lateral views.
Figure 2
Figure 2
Photographs of patients showing detailed craniofacial phenotype. A–B: External ears of Patient 1 presenting microtia type 3. C–D: Epibulbar dermoid and proximally placed thumb in Patient 1. E–F: Patient 3 external ears presenting microtia type 1.
Figure 3
Figure 3
Three-dimensional (3D) computed tomography (CT) scans of our cohort of patients and a Treacher Collins patient for comparison of craniofacial abnormalities. Pt (Patient) 1, Pt2, and Pt3: Frontal, lateral, and submental views of individuals with EFTUD2 mutations on 3D-CT. Red arrows indicate that the bilateral aplasia of the zygomatic arch in patients 2 and 3 and unilateral zygomatic arch clefting in Patient 1. TCS: 3D-CT of individual with TCS (Treacher Collins syndrome). Green arrows show inferiolateral orbital clefts of the zygoma in addition to zygomatic arch clefts in TCS.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome. Am J Hum Genet. 2012;90:925–933. - PMC - PubMed
    1. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011;43:20–22. - PubMed
    1. Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith Junior A. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol. 2006;15:171–174. - PubMed
    1. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Bohm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet. 2012;90:369–377. - PMC - PubMed
    1. Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB. Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet. 2012;49:353–361. - PMC - PubMed

Publication types

MeSH terms