Journal article

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Owen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, Sandra E Staffieri, Lisa S Kearns, Kate Laurie, Abraham Kuot, Ayub Qassim, Thomas L Edwards, Michael A Coote, Erica Mancel, Mark J Walland, Joanne Dondey, Anna Galanopoulous, Robert J Casson, Richard A Mills, Daniel G MacArthur, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig

Clinical Genetics | WILEY | Published : 2020


Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in MYRF, TMEM98, MFRP, and PRSS56. Two of four PRSS56 families harbored the previously described c.1066dupC variant implicated in over half of all reported PRSS56 kindreds, with different surrounding haplotypes in each family suggesting a mutational hotspot. Individuals with a genetic diagnosis had shorter mean axial lengths and..

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