Berry, Vanita and Pontikos, Nikolas and Dudakova, Lubica and Moore, Anthony T. and Quinlan, Roy and Liskova, Petra and Michaelides, Michel (2020) 'A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.', Ophthalmic genetics., 41 (2). pp. 131-134.
Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family. Methods: Whole exome sequencing (WES) was performed on one affected member in the British family and two affected members in the Czech family. Results: A novel missense variant c.388C > T; p.(R130C) was identified in the Lens integral membrane protein (LIM2) and found to co-segregate with disease in both families. Conclusions: Here we report the first autosomal dominant congenital cataract variant p.(R130C) in LIM2, causing a non-syndromic pulverulent and nuclear phenotype in European families.
|Full text:||(AM) Accepted Manuscript|
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|Publisher Web site:||https://doi.org/10.1080/13816810.2020.1737950|
|Publisher statement:||This is an Accepted Manuscript of an article published by Taylor & Francis in Ophthalmic genetics on 23 March 2020 available online: http://www.tandfonline.com/10.1080/13816810.2020.1737950|
|Date accepted:||28 February 2020|
|Date deposited:||21 April 2020|
|Date of first online publication:||23 March 2020|
|Date first made open access:||23 March 2021|
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