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Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma
journal contribution
posted on 2023-05-18, 01:32 authored by Crawford, A, Souzeau, E, Agar, A, Ridge, B, Dubowsky, A, Kathryn BurdonKathryn Burdon, Craig, JEMYOC gene variants are associated with autosomal dominant primary open angle glaucoma (POAG). In this study, we describe a previously unreported MYOC variant segregating with a POAG phenotype in an Australian family. Two individuals affected with POAG and three unaffected individuals from the same family were recruited through the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Direct sequencing of all MYOC coding exons identified the novel heterozygous single nucleotide transition MYOC:c.1119G>A, p.(Trp373*), predicted to encode an aberrant truncated MYOC protein in two affected siblings. Two unaffected siblings and an unaffected niece were negative for the MYOC sequence variant. © 2014 Elsevier B.V.
History
Publication title
GeneVolume
545Pagination
271-275ISSN
0378-1119Department/School
Menzies Institute for Medical ResearchPublisher
Elsevier Science BvPlace of publication
Po Box 211, Amsterdam, Netherlands, 1000 AeRights statement
Copyright 2014 ElsevierRepository Status
- Restricted