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Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

ABSTRACT: 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.

SUBMITTER: Patat O

PROVIDER: S-EPMC3776467 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

Patat O O van Ravenswaaij-Arts C M A CM Tantau J J Corsten-Janssen N N van Tintelen J P JP Dijkhuizen T T Kaplan J J Chassaing N N

Molecular syndromology 20130709 6

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 fea ...[more]

PMID: 24167467

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