Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/123856
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Type: Journal article
Title: The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort
Author: Siggs, O.M.
Awadalla, M.S.
Souzeau, E.
Staffieri, S.E.
Kearns, L.S.
Laurie, K.
Kuot, A.
Qassim, A.
Edwards, T.L.
Coote, M.A.
Mancel, E.
Walland, M.J.
Dondey, J.
Galanopoulous, A.
Casson, R.J.
Mills, R.A.
MacArthur, D.G.
Ruddle, J.B.
Burdon, K.P.
Craig, J.E.
Citation: Clinical Genetics, 2020; 97(5):764-769
Publisher: Wiley
Issue Date: 2020
ISSN: 0009-9163
1399-0004
Statement of
Responsibility: 
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
Abstract: 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 harboured 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 higher hyperopia than those without, with recessive forms associated with the most extreme phenotypes. These findings detail the genetic architecture of nanophthalmos and posterior microphthalmos in a cohort of predominantly European ancestry, their relative clinical phenotypes, and highlight the shared genetic architecture of rare and common disorders of refractive error.
Keywords: Axial length; MFRP; microphthalmia; MYRF; nanophthalmos; posterior microphthalmos; PRSS56; TMEM98
Rights: © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
RMID: 1000015142
DOI: 10.1111/cge.13722
Grant ID: http://purl.org/au-research/grants/nhmrc/1107098
Appears in Collections:Opthalmology & Visual Sciences publications

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