Article

Mutations in <i>PIKFYVE</i> cause autosomal dominant congenital cataract

2021-06-26

Abstract excerpt

Congenital cataract, an ocular disease predominantly occurring within the first decade of life, is one of the leading causes of blindness in children. Through whole exome sequencing of a Chinese family with congenital cataract, we identified a disease-causing mutation (p.G1943E) in PIKFYVE , which affecting the PIP kinase domain of the PIKfyve protein. We demonstrated that heterozygous/homozygous disruption of PI...

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Literature Corpus work: 36b9e1ad-6a9b-570a-be15-df12969155eb
DOI: 10.1101/2021.06.25.449865

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