[Formation of congenital defects during ocular development. II. Genetic background of oculogenesis and developmental birth defects].
The course of oculogenesis is genetically controlled by genes, that are selectively expressed in the developing eye. Many of them, first recognized in studies on model animals, such as fruit fly (Drosophila melanogaster) proved, that they play similar roles in humans. The crucial role in cascade of genetic control of oculogenesis plays a system of genes PAX6-EYA1/SIX3-DACH1. In this work there are described also other genes, that form a network of interactions and regulations, such as: BMP4, BMP7, OPTX2, SOX1, PAX2, PITX2, PAX3, CHX10 and other genes. Describing function of each gene, author presented simultaneously all known congenital defects and syndromes, that are caused by mutations of above mentioned genes, such as: aniridia, anophthalmia, Peters anomaly and others.
Krawczyński
Maciej R
MR
Pracowni Poradnictwa Genetycznego w Chorobach Narzadu Wzroku Katedry, Zakładu Genetyki Medycznej Akademii Medycznej w Poznaniu.
D000818:Animals; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans