Ontology highlight
ABSTRACT:
SUBMITTER: Siggs OM
PROVIDER: S-EPMC7811993 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Siggs Owen M OM Awadalla Mona S MS Souzeau Emmanuelle E Staffieri Sandra E SE Kearns Lisa S LS Laurie Kate K Kuot Abraham A Qassim Ayub A Edwards Thomas L TL Coote Michael A MA Mancel Erica E Walland Mark J MJ Dondey Joanne J Galanopoulous Anna A Casson Robert J RJ Mills Richard A RA MacArthur Daniel G DG Ruddle Jonathan B JB Burdon Kathryn P KP Craig Jamie E JE
Clinical genetics 20200305 5
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 ...[more]