Open AccessRetinoblastoma discordance in families with twins
Author(s) -
Aloysius Abraham,
Kannan Thirumalairaj,
Namrata Gaikwad,
Veerappan Muthukkaruppan,
Alla G. Reddy,
Kumarasamy Thangaraj,
Usha Kim,
Ayyasamy Vanniarajan
Publication year - 2019
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_1245_18
Subject(s) - retinoblastoma , proband , germline , medicine , germline mutation , genetics , genetic counseling , offspring , gene , biology , mutation , pregnancy
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.