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Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations
PURPOSE: To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. OBSERVATIONS: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female pa...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956696/ https://www.ncbi.nlm.nih.gov/pubmed/29780932 http://dx.doi.org/10.1016/j.ajoc.2018.02.021 |
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author | Chauhan, Bharesh K. Medsinge, Anagha Baumgartner, Matthew P. Scanga, Hannah L. Kamakari, Smaragda Gajdosova, Eva Camacho, Carlos J. Nischal, Ken K. |
author_facet | Chauhan, Bharesh K. Medsinge, Anagha Baumgartner, Matthew P. Scanga, Hannah L. Kamakari, Smaragda Gajdosova, Eva Camacho, Carlos J. Nischal, Ken K. |
author_sort | Chauhan, Bharesh K. |
collection | PubMed |
description | PURPOSE: To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. OBSERVATIONS: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female patients were diagnosed with bilateral APyC, intact irides and nystagmus. Genetic testing identified the three patients had novel missense mutations in PAX6 – c.128C > T; p.Ser43Phe (S43F), c. 197T > A; p.Ile66Asn (I66N) and c.781C > G; p.Arg261Gly (R261G). CONCLUSIONS AND IMPORTANCE: This study demonstrates a novel phenotype of bilateral APyC, intact irides, and nystagmus in whom genetic testing for PAX6 identified novel missense mutations (S43F, I66N, R261G) in highly conserved DNA-binding domains. Implications of understanding why the iris is present in these cases is discussed. |
format | Online Article Text |
id | pubmed-5956696 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-59566962018-05-18 Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations Chauhan, Bharesh K. Medsinge, Anagha Baumgartner, Matthew P. Scanga, Hannah L. Kamakari, Smaragda Gajdosova, Eva Camacho, Carlos J. Nischal, Ken K. Am J Ophthalmol Case Rep Brief report PURPOSE: To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. OBSERVATIONS: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female patients were diagnosed with bilateral APyC, intact irides and nystagmus. Genetic testing identified the three patients had novel missense mutations in PAX6 – c.128C > T; p.Ser43Phe (S43F), c. 197T > A; p.Ile66Asn (I66N) and c.781C > G; p.Arg261Gly (R261G). CONCLUSIONS AND IMPORTANCE: This study demonstrates a novel phenotype of bilateral APyC, intact irides, and nystagmus in whom genetic testing for PAX6 identified novel missense mutations (S43F, I66N, R261G) in highly conserved DNA-binding domains. Implications of understanding why the iris is present in these cases is discussed. Elsevier 2018-02-28 /pmc/articles/PMC5956696/ /pubmed/29780932 http://dx.doi.org/10.1016/j.ajoc.2018.02.021 Text en © 2018 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Brief report Chauhan, Bharesh K. Medsinge, Anagha Baumgartner, Matthew P. Scanga, Hannah L. Kamakari, Smaragda Gajdosova, Eva Camacho, Carlos J. Nischal, Ken K. Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
title | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
title_full | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
title_fullStr | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
title_full_unstemmed | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
title_short | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
title_sort | case series: pyramidal cataracts, intact irides and nystagmus from three novel pax6 mutations |
topic | Brief report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956696/ https://www.ncbi.nlm.nih.gov/pubmed/29780932 http://dx.doi.org/10.1016/j.ajoc.2018.02.021 |
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