Journal article
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene
Ophthalmic Genetics, Vol.33(2), pp.100-106
06/01/2012
DOI: 10.3109/13816810.2011.634878
PMID: 22191992
Abstract
Background: Branchio-Oculo-Facial syndrome (BOFS) is a rare, autosomal dominant developmental disorder that has a distinct phenotype with characteristic craniofacial abnormalities. We report a family with extensive ocular manifestations of BOFS caused by a novel mutation in the transcription factor AP-2 alpha (TFAP2A) gene. Materials and methods: Case report of phenotypic and genotypic characterization of a family with BOFS. Results: An infant presenting with anophththalmia/coloboma and subtle craniofacial symptoms was found to have a family history of congenital cataracts and colobomas in her mother. A mutation in the TFAP2A gene associated with BOFS (heterozygous H384Y in exon 7) was found in both the proband and her mother. This mutation had not been reported previously. Compared with other molecularly confirmed cases in the literature, this family has primarily ocular features, which are severe. Conclusions: BOFS can have profound ocular involvement without prominent extraocular features. When the syndrome presents in this way, it may be confused with isolated autosomal dominant chorioretinal coloboma. Testing for mutations in the TFAP2A gene is recommended to establish an accurate diagnosis for the family.
Details
- Title: Subtitle
- A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene
- Creators
- Alina V Dumitrescu - Pediatric Ophthalmology, Department of Ophthalmology and Visual Science, University of Iowa Hospital and ClinicsJeff M Milunsky - Center for Human Genetics, Boston University School of MedicineSusannah Q Longmuir - Pediatric Ophthalmology, Department of Ophthalmology and Visual Science, University of Iowa Hospital and ClinicsArlene V Drack - Pediatric Ophthalmology, Department of Ophthalmology and Visual Science, University of Iowa Hospital and Clinics
- Resource Type
- Journal article
- Publication Details
- Ophthalmic Genetics, Vol.33(2), pp.100-106
- Publisher
- Taylor & Francis
- DOI
- 10.3109/13816810.2011.634878
- PMID
- 22191992
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Language
- English
- Date published
- 06/01/2012
- Academic Unit
- Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979957702771
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