Agnathia-otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes

Sean Herman, Maria Delio, Bernice Morrow, Joy Samanich

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Agnathia-otocephaly is a rare, often lethal malformation characterized by absence or hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior midline fusion of the ears (melotia, synotia). Etiologies have been linked to both genetic and teratogenic factors and to date, a definitive, commonly identifiable cause has not been recognized. Mouse and human genetic studies have implicated OTX2 and PRRX1 as potential candidate genes for agnathia-otocephaly. In this study we report a sporadic case of agnathia-otocephaly complex with associated features of maldevelopment and examine the roles of OTX2 and PRRX1. The proband, a male born at 31. weeks, displayed severe micrognathia, microstomia, posteriorly-rotated and low set ears, and downward slanting palpebral fissures. Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected. This suggests that mutations in different genes or environmental causes are responsible.

Original languageEnglish (US)
Pages (from-to)124-129
Number of pages6
Issue number1
StatePublished - Feb 15 2012


  • Agnathia
  • Craniofacial
  • OTX2
  • Otocephaly
  • PRRX1

ASJC Scopus subject areas

  • Genetics


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