Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia

Atac, David; Koller, Samuel; Hanson, James V M; Feil, Silke; Tiwari, Amit; Bahr, Angela; Baehr, Luzy; Magyar, István; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang

doi:10.1093/hmg/ddz268

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Atac, D., Koller, S., Hanson, J. V. M., Feil, S., Tiwari, A., Bahr, A., Baehr, L., Magyar, I., Kottke, R., Gerth-Kahlert, C., & Berger, W. (2020). Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Human Molecular Genetics, 29(1), 132–148. https://doi.org/10.1093/hmg/ddz268

Abstract

Optic nerve hypoplasia (ONH) is a congenital optic nerve abnormality caused by underdevelopment of retinal ganglion cells (RGCs). Despite being a rare disease, ONH is the most common optic disc anomaly in ophthalmological practice. So far, mutations in several genes have been identified as causative, however many cases of ONH remain without a molecular explanation. The early transcription factor atonal basic-helix-loop-helix (bHLH) transcription factor 7 (ATOH7) is expressed in retinal progenitor cells and has a crucial role in RGC de