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Novel mutations of the PAX6, FOXC1, and PITX2 genes cause abnormal development of the iris in Vietnamese individuals.

Molecular vision - 1 Jan 2021

Nguyen Ha Hai, Pham Chau Minh, Nguyen Hoa Thi Thanh, Vu Nhung Phuong, Duong Trang Thu, Nguyen Ton Dang, Nguyen Bac Duy, Nguyen Hiep Van, Nong Hai Van

Abstract excerpt

Purpose: Congenital iris abnormality is a feature of several genetic conditions, such as aniridia syndrome and anterior segment degeneration (ASD) disorders. Aniridia syndrome is caused by mutations in the PAX6 gene or its regulatory elements in the locus 11p13 or deletions of contiguous genes, while ASDs are the result of mutations in various genes, such as PAX6, FOXC1, PITX2, and CYP1B1. This study aims to...

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PMID: 34566401
PMCID: PMC8416135

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