Please use this identifier to cite or link to this item: http://localhost:8080/xmlui/handle/123456789/5834
Title: Novel point mutation and intronic mutations of RB1 gene in retinoblastoma patients in Indonesia
Authors: Todja Umar, Batari
Rimayant, Ulfah
Pagarra, Halimah
Budu, Budu
Mass, Nasrum
Setyawati Muhiddin, Habibah
Keywords: germline mutation
RB1 gene
retinoblastoma
Issue Date: 2022
Abstract: Novel point mutation and intronic mutations of RB1 gene in retinoblastoma patients in Indonesia Batari Todja Umar,1 Ulfah Rimayanti,1,2 Halimah Pagarra,1 Budu,1,3 Nasrum Massi,4 Habibah Setyawati Muhiddin1 Medical Journal of Indonesia Basic Medical Research ABSTRACT BACKGROUND Retinoblastoma (RB) is an inherited disorder caused by the RB1 gene mutation in retinal cells or germline mutation. Identifying the specific mutation is crucial for prognosis, inheritance risk assessment, and treatment planning. This study aimed to identify the germline mutation in the RB1 gene in patients with RB and their parents from the eastern part of Indonesia. METHODS This observational analytic study recruited patients with RB and their parents between 2016 and 2018 at Dr. Wahidin Sudirohusodo Hospital, Makassar, Indonesia. The normal control subjects were children from the outpatient clinic at the Department of Ophthalmology, Universitas Hasanuddin Hospital. Ophthalmic examinations and peripheral blood tests were performed in RB patients, their parents, and control subjects. Genomic DNA was isolated from blood leukocytes and amplified using conventional PCR. Hotspot exons 8, 10, 14, 17, and 22 were screened for mutations using the Sanger method. RESULTS There were 21 patients with RB (16 unilateral and 5 bilateral) and 14 normal subjects. Of the 184 variations detected in RB patients, 164 were also found in normal subjects. 19 intronic mutations in introns 10, 16, 17, and 21, and 1 novel missense mutation in exon 17 were identified. Parental testing revealed 8 substitutions in exon 17 and 5 intronic mutations in introns 16 and 17 of the parents. None of the variations in exons were passed to their children. CONCLUSIONS This study found a novel missense mutation in exon 17 of the RB1 gene. KEYWORDS germline mutation, RB1 gene, retinoblastoma
URI: http://localhost:8080/xmlui/handle/123456789/5834
Appears in Collections:VOL 31 NO 4 (2022)

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