Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies

Reis, L M; Tyler, R C; Weh, E; Hendee, K E; Schilter, K F; Phillips, J A; Sequeira, S; Schinzel, A; Semina, E V

doi:10.5167/uzh-133433

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Reis, L. M., Tyler, R. C., Weh, E., Hendee, K. E., Schilter, K. F., Phillips, J. A., Sequeira, S., Schinzel, A., & Semina, E. V. (2016). Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clinical Genetics, 90, 378–382. https://doi.org/10.1111/cge.12816

Abstract

The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (WES) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three probands; in two of these, a combination of two Mendelian disorders was found to completely explain the patients' features whereas in the third case only the ocular findings could be explained by the genetic diagnosis. The molecular diagnosis for glaucoma included two cases with compound hete