Retinoblastoma discordance in families with twins.

Indian J Ophthalmol 2019 03;67(3):436-439

Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, India.

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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Source
http://www.ijo.in/text.asp?2019/67/3/436/252402
Publisher Site
http://dx.doi.org/10.4103/ijo.IJO_1245_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407382PMC
March 2019
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