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Indian J Ophthalmol. 2019 Mar;67(3):436-439. doi: 10.4103/ijo.IJO_1245_18.

Retinoblastoma discordance in families with twins.

Author information

1
Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, India.
2
Department of Orbit, Oculoplasty and Oncology, Aravind Eye Hospital, Madurai, India.
3
Department of Immunology and Stem Cell Biology, Aravind Medical Research Foundation, Madurai, India.
4
Council of Scientific and Industrial Research Centre for Cellular and Molecular Biology, Hyderabad, India.

Abstract

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.

KEYWORDS:

DNA profiling; Retinoblastoma 1 (RB1) gene; genetic analysis; retinoblastoma; twins

PMID:
30777982
DOI:
10.4103/ijo.IJO_1245_18
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