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Simplex and Complex Microphthalmia Genes—OTX2, RAX, VSX2, VAX1, SIX6, and HMX1 

Simplex and Complex Microphthalmia Genes—OTX2, RAX, VSX2, VAX1, SIX6, and HMX1
Chapter:
Simplex and Complex Microphthalmia Genes—OTX2, RAX, VSX2, VAX1, SIX6, and HMX1
Author(s):

Anne M. Slavotinek

DOI:
10.1093/med/9780199934522.003.0105
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date: 28 February 2021

This chapter provides a summary for selected genes that cause isolated or syndromic anophthalmia/microphthalmia (A/M) in humans. For simplicity, we discuss each gene separately with subheadings for Gene Description, Clinical Summary, Molecular Genetics, Diagnosis and Molecular Pathogenesis. OTX2, RAX and VSX2 are well-established causes of A/M and have been mutated in patients with A/M with a broader spectrum of eye defects, including anterior segment dysgenesis, coloboma and optic nerve hypoplasia. In contrast, for VAX1, SIX6 and HMX1, mutations have been described only in single patients or families, thus preventing confident delineation of comprehensive information on phenotype and genotype. Animal models demonstrating loss of function have in all cases supported a role for mutations in the orthologous human genes as the pathogenic causes of developmental eye defects in affected patients.

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