A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

BMC Medical Genetics

Case Report

Jonathan B. Ruddle¹  Jamie E. Craig²  Emmanuelle Souzeau²  Bronwyn Ridge²  Kathryn P. Burdon³  Andrew Dubowsky⁴ 

[1] Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye & Ear Hospital, Melbourne, Australia;Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia;Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia;SA Pathology, Flinders Medical Centre, Adelaide, Australia;

关键词: De novo variant;    Juvenile open angle glaucoma;    Genetic testing;    Glaucoma;    Myocilin;   

DOI  :  10.1186/s12881-016-0291-5

 received in 2015-09-12, accepted in 2016-04-08,  发布年份 2016

来源: Springer

【 摘 要 】

BackgroundGlaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8–36 % of cases, and display an autosomal dominant inheritance with high penetrance. Molecular diagnosis is important for early identification as therapies are effective in minimizing vision loss and MYOC variants can be associated to severe glaucoma. MYOC variants are usually inherited, however a fifth of carriers do not report a family history. The occurrence of de novo MYOC variants is currently unknown.Case presentationIn this study we investigated a 14 year old male Caucasian patient diagnosed with JOAG, and no family history of glaucoma. A novel probably deleterious MYOC:p.(Pro254Leu) variant was identified in the index case. This variant was not present in the parents or the siblings.ConclusionThis is the second report of a de novo MYOC variant in a sporadic case of JOAG and it is currently unknown if this mechanism occurs more frequently. This finding emphasizes the importance of screening individuals with JOAG for MYOC mutations irrespective of a negative family history.

【 授权许可】

CC BY   
© Souzeau et al. 2016