Pathology
germline mutation in the EYA1 gene (MIM.601653) in
- branchiootorenal syndrome (BOR syndrome) (MIM.113650)
- ocular anterior segment anomalies
- Peters anomaly
- congenital cataract
- nystagmus
References
Abdelhak, S.; Kalatzis, V.; Heilig, R.; Compain, S.; Samson, D.; Vincent, C.; Levi-Acobas, F.; Cruaud, C.; Le Merrer, M.; Mathieu, M.; Konig, R.; Vigneron, J.; Weissenbach, J.; Petit, C.; Weil, D. : Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum. Molec. Genet. 6: 2247-2255, 1997. PubMed ID : 9361030
Abdelhak, S.; Kalatzis, V.; Heilig, R.; Compain, S.; Samson, D.; Vincent, C.; Weil, D.; Cruaud, C.; Sahly, I.; Leibovici, M.; Bitner-Glindzicz, M.; Francis, M.; Lacombe, D.; Vigneron, J.; Charachon, R.; Boven, K.; Bedbeder, P.; Van Regemorter, N.; Weissenbach, J.; Petit, C. : A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genet. 15: 157-164, 1997. PubMed ID : 9020840