Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects

Microphthalmia is a congenital eye defect caused by the underdevelopment of the optical structures typically bearing small eyeballs and cornea. We identified a novel missense variant in MAB21L1, which was dominantly inherited in a family with microphthalmia. We analyzed 3D structures of several mutant proteins predicted by AlphaFold2, and observed the effects of the mutant proteins in cultured cells and Drosophila sensory organs. We demonstrate how a nucleotide change in human genome could lead to the structural and functional changes in the encoded protein. Our study will be informative to the doctors and patients planning the early prevention against this congenital anomaly. (By Dr. Zhaohui Wang, https://jmg.bmj.com/content/early/2022/11/28/jmg-2022-108506 )

The authors at Institute of Genetics and Developmental Biology, Chinese Academy of Sciences) in Beijing

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