Retinoblastoma discordance in families with twins

Retinoblastoma has an increased inheritance risk of germline RB1 mutations in offspring and siblings, especially twins. Three families, each having one retinoblastoma-affected twin, were selected for genetic analysis and DNA profiling. Germline RB1 mutations were found in all probands. DNA profiling...

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Autores principales: Abraham, Aloysius, Thirumalairaj, Kannan, Gaikwad, Namrata, Muthukkaruppan, Veerappan, Reddy, Alla G, Thangaraj, Kumarasamy, Kim, Usha, Vanniarajan, Ayyasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407382/
https://www.ncbi.nlm.nih.gov/pubmed/30777982
http://dx.doi.org/10.4103/ijo.IJO_1245_18
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author Abraham, Aloysius
Thirumalairaj, Kannan
Gaikwad, Namrata
Muthukkaruppan, Veerappan
Reddy, Alla G
Thangaraj, Kumarasamy
Kim, Usha
Vanniarajan, Ayyasamy
author_facet Abraham, Aloysius
Thirumalairaj, Kannan
Gaikwad, Namrata
Muthukkaruppan, Veerappan
Reddy, Alla G
Thangaraj, Kumarasamy
Kim, Usha
Vanniarajan, Ayyasamy
author_sort Abraham, Aloysius
collection PubMed
description Retinoblastoma has an increased inheritance risk of germline RB1 mutations in offspring and siblings, especially twins. Three families, each having one retinoblastoma-affected twin, were selected for genetic analysis and DNA profiling. Germline RB1 mutations were found in all probands. DNA profiling carried on similar-looking twins of families I and II, proved them to be fraternal. This study demonstrates the importance of genetic analysis of RB1 gene for risk prediction in retinoblastoma families. It also emphasizes that DNA profiling is a mandate for genetic screening of families with twins, thus adding a new dimension in counseling of retinoblastoma.
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spelling pubmed-64073822019-03-28 Retinoblastoma discordance in families with twins Abraham, Aloysius Thirumalairaj, Kannan Gaikwad, Namrata Muthukkaruppan, Veerappan Reddy, Alla G Thangaraj, Kumarasamy Kim, Usha Vanniarajan, Ayyasamy Indian J Ophthalmol Case Reports Retinoblastoma has an increased inheritance risk of germline RB1 mutations in offspring and siblings, especially twins. Three families, each having one retinoblastoma-affected twin, were selected for genetic analysis and DNA profiling. Germline RB1 mutations were found in all probands. DNA profiling carried on similar-looking twins of families I and II, proved them to be fraternal. This study demonstrates the importance of genetic analysis of RB1 gene for risk prediction in retinoblastoma families. It also emphasizes that DNA profiling is a mandate for genetic screening of families with twins, thus adding a new dimension in counseling of retinoblastoma. Medknow Publications & Media Pvt Ltd 2019-03 /pmc/articles/PMC6407382/ /pubmed/30777982 http://dx.doi.org/10.4103/ijo.IJO_1245_18 Text en Copyright: © 2019 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Abraham, Aloysius
Thirumalairaj, Kannan
Gaikwad, Namrata
Muthukkaruppan, Veerappan
Reddy, Alla G
Thangaraj, Kumarasamy
Kim, Usha
Vanniarajan, Ayyasamy
Retinoblastoma discordance in families with twins
title Retinoblastoma discordance in families with twins
title_full Retinoblastoma discordance in families with twins
title_fullStr Retinoblastoma discordance in families with twins
title_full_unstemmed Retinoblastoma discordance in families with twins
title_short Retinoblastoma discordance in families with twins
title_sort retinoblastoma discordance in families with twins
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407382/
https://www.ncbi.nlm.nih.gov/pubmed/30777982
http://dx.doi.org/10.4103/ijo.IJO_1245_18
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