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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