Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF
Owen M Siggs, Emmanuelle Souzeau, James Breen, Ayub Qassim, Tiger Zhou, Andrew Dubowsky, Jonathan B Ruddle, Jamie E Craig
Molecular Vision | MOLECULAR VISION | Published : 2019
Purpose: Nanophthalmos is a rare subtype of microphthalmia associated with high hyperopia and an increased risk of angle-closure glaucoma. We investigated the genetic cause of nanophthalmos and high hyperopia in an autosomal dominant kindred. Methods: A proband with short axial length, high hyperopia, and dextrocardia was subjected to exome sequencing. Human and rodent gene expression data sets were used to investigate the expression of relevant genes. Results: We identified a segregating heterozygous frameshift variant at the 3' end of the penultimate exon of MYRF. Using Myc-MYRF chromatin immunoprecipitation data from rat oligodendrocytes, MYRF was found to bind immediately upstream of the..View full abstract
Awarded by Australian National Health and Medical Research Council (NHMRC, Centres of Research Excellence Grant)
Supported by the Australian National Health and Medical Research Council (NHMRC, Centres of Research Excellence Grant APP1116360 to JEC, Project Grant APP1107098 to JEC and OMS), and The Rebecca L Cooper Medical Research Foundation (Project Grant to OMS). JEC was an NHMRC Practitioner Fellow.