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. 2023 Sep 8;102(36):e35068.
doi: 10.1097/MD.0000000000035068.

RB1 gene mutations and genetic spectrum in retinoblastoma cases

Demet Akdeniz Odemis  1 , Rejin Kebudi  2 , Jamila Bayramova  1 , Seda Kilic Erciyas  1 , Gozde Kuru Turkcan  1   3 , Seref Bugra Tuncer  1 , Ozge Sukruoglu Erdogan  1 , Betul Celik  1 , Busra Kurt Gultaslar  1 , Sema Buyukkapu Bay  2 , Samuray Tuncer  4 , Hulya Yazici  1   5
Affiliations

RB1 gene mutations and genetic spectrum in retinoblastoma cases

Demet Akdeniz Odemis et al. Medicine (Baltimore). .

Abstract

The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both the Sanger sequencing or NGS methods, and the large deletions and duplications were investigated using the MLPA analysis and CNV algorithm. The bilateral/trilateral retinoblastoma rate was 66% in the study population. The general frequency of RB1 gene mutation in the germline of the patients with retinoblastoma was 41.9%. Approximately 51.5% of the patients were diagnosed earlier than 12 months old, and de novo mutation was found in 32.4% of the patients. Germline small genetic rearrangement mutations were detected in 78.9% of patients and LGRs were detected in 21.1% of patients. An association was detected between the eye color of the RB patients and RB1 mutations. 8 of the mutations detected in the RB1 gene were novel in the study.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

Figure 1.
Figure 1.
An example of a detailed family tree of the presenting family.
Figure 2.
Figure 2.
The distribution of the mutation types in accordance with the diagnosis.
Figure 3.
Figure 3.
The distribution of mutations detected in the RB1 gene sequence on the exon and intronic regions. RB1 = retinoblastoma gene.
See this image and copyright information in PMC

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