PURPOSE: To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A). METHODS: Full ophthalmological evaluation and direct sequencing of TFAP2A. RESULTS: A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified. CONCLUSIONS: This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.
PURPOSE: To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A). METHODS: Full ophthalmological evaluation and direct sequencing of TFAP2A. RESULTS: A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified. CONCLUSIONS: This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.
Authors: J A West-Mays; J Zhang; T Nottoli; S Hagopian-Donaldson; D Libby; K J Strissel; T Williams Journal: Dev Biol Date: 1999-02-01 Impact factor: 3.582
Authors: A E Lin; R J Gorlin; I W Lurie; H G Brunner; I van der Burgt; I V Naumchik; N V Rumyantseva; S Stengel-Rutkowski; K Rosenbaum; P Meinecke Journal: Am J Med Genet Date: 1995-03-13
Authors: Andrea Hoffmann; Yusen Huang; Rinako Suetsugu-Maki; Carol S Ringelberg; Craig R Tomlinson; Katia Del Rio-Tsonis; Panagiotis A Tsonis Journal: Mol Med Date: 2012-05-09 Impact factor: 6.354