Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent | Zendy

Sionne E. M. Lucas | Zendy; Tiger Zhou | Zendy; Nicholas B. Blackburn | Zendy; Richard Mills | Zendy; Jonathan Ellis | Zendy; Paul Leo | Zendy; Emmanuelle Souzeau | Zendy; Bronwyn Ridge | Zendy; Jac Charlesworth | Zendy; Matthew A. Brown | Zendy; Richard Lindsay | Zendy; Jamie E. Craig | Zendy; Kathryn P. Burdon | Zendy

Open Access

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent

Author(s) -

Sionne E. M. Lucas,

Tiger Zhou,

Nicholas B. Blackburn,

Richard Mills,

Jonathan Ellis,

Paul Leo,

Emmanuelle Souzeau,

Bronwyn Ridge,

Jac Charlesworth,

Matthew A. Brown,

Richard Lindsay,

Jamie E. Craig,

Kathryn P. Burdon

Publication year - 2017

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.17-22417

Subject(s) - keratoconus , exome sequencing , genetics , biology , exact test , copy number variation , gene , population , case control study , genotype , medicine , pathology , mutation , cornea , genome , environmental health , neuroscience

The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the role of the gene in the autosomal recessive disease Brittle Cornea Syndrome. Coding variants in ZNF469 have been assessed for association with keratoconus in several small studies, with conflicting results. We assessed rare, potentially pathogenic variants in ZNF469 for enrichment in keratoconus patients in a cohort larger than all previous studies combined.

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