Table 5 Mutation detection rates in unilateral and bilateral RB patient groups studies across the globe
From: Retinoblastoma genetics screening and clinical management
S. nos | Author | Country | Type of mutations | Mutation detection rate BLRB (%) | Mutation detection rate ULRB | Year of study |
|---|---|---|---|---|---|---|
02 | Mohd Khalid, M.K., et al | Malaysia | Nonsense, Frame shift, Splice site and De-novo origin | 100 | 25% | 2015 |
05 | Grotta et al. | Italy | Point mutations, Frame shift, Large deletions | 96.5 | 22% | 2015 |
09 | Chen, Z., et al | USA | Nonsense, Splice, Frameshift | 97 | 18% | 2014 |
07 | Price et al | United Kingdom | Point mutation, deletions, missense, splice site mutations | 96 | 9.5% | 2014 |
10 | Seo, S.H., et al | Korea | Missense, nonsense, frameshift and splice | 94.5 | None | 2013 |
11 | Ottaviani, D., et al | Argentina | Nonsense, frameshift, missense, deletions | 94 | – | 2013 |
08 | Dommering, C.J., et al | Netherland | Nonsense, frameshift, splice, large indel, missense, chromosomal deletions and promoter | 92 | 10% | 2014 |
01 | Frenkal.Set al | France | Stop codon, Splice site and large deletions | 90 | 19.8% | 2016 |
15 | Macias, M., et al | Mexico | Nonsense, Splice, Frameshift | 76.9 | 34.8% | 2008 |
16 | Abouzeid et al | Switzerland | Nonsense, frameshift, missense, deletions | 73 | 10.7% | 2007 |
03 | Zhang, L., et al | China | Nonsense, Splice, Frameshift | 65 | 35% | 2015 |
06 | Devarajan et al | India | Nonsense, Frame shift, Splice site and Denovo origin | 63 | 37% | 2015 |
04 | Kalsoom, S., et al | Pakistan | Null mutation, deletions, missense, splice site mutations | 45.7 | 54.3% | 2015 |
12 | Barbosa, R.H., et al | Brasil | Nonsense, Splice, Frameshift | 42.2 | 56.3% | 2013 |
14 | Abidi et al., | Morocco | Duplication, Deletion, Splice, Frameshift | 40 | None | 2011 |
17 | Choy et al | Hong kong & China | Nonsense, Splice, Frameshift | 38 | 19% | 2002 |
13 | Ahani et al | Iran | Missense, frameshift and splice site | 16.6 | 18.2% | 2013 |
14 | Present study—Himika, Malaichamy, et al | India | Missense, frameshift, gene deletions | 86.2 | 19% | 2020 |