Otocephaly-dysgnathia complex: Description of four cases and confirmation of the role of OTX2

O. Patat, C. M.A. Van Ravenswaaij-Arts, J. Tantau, N. Corsten-Janssen, J. P. Van Tintelen, T. Dijkhuizen, J. Kaplan, N. Chassaing*

*Corresponding author for this work

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    Otocephaly-dysgnathia complex is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Mutations in the orthodenticle homeobox 2 (OTX2) and paired related homeobox 1 (PRRX1) genes have recently been identified in some cases. We screened 4 otocephalic cases for these 2 genes and identified OTX2 mutations in 2 of them, thus confirming OTX2 is implicated in otocephaly. No PRRX1 mutation was identified. Interestingly, ocular involvement is not a constant feature in otocephalic cases with an OTX2 mutation. In one case, the mutation was inherited from a microphthalmic mother. The mechanism underlying this intrafamilial phenotypic variability remains unclear, but other genetic factors are likely to be necessary for the manifestation of the otocephalic phenotype.

    Original languageEnglish
    Pages (from-to)302-305
    Number of pages4
    JournalMolecular Syndromology
    Issue number6
    Publication statusPublished - 2013


    • Agnathia
    • Microphthalmia
    • Otocephaly
    • OTX2
    • PRRX1

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