REPORT OF A NOVEL MUTATION IN RB1 GENE FROM AN IRANIAN RETINOBLASTOMA PATIENT AND ITS EFFECT ON SPLICING PATTERN OF MRNA

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AHANI A.; KHORAMKHORSHID H.R.; BEHNAM B.; AKBARI M.T.

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Journal: Journal of Shahrekord University of Medical Sciences Year:2012 | Volume:14 | Issue:4 Page(s): 88-95

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Title

REPORT OF A NOVEL MUTATION IN RB1 GENE FROM AN IRANIAN RETINOBLASTOMA PATIENT AND ITS EFFECT ON SPLICING PATTERN OF MRNA

Author(s)

AHANI A. | KHORAMKHORSHID H.R. | BEHNAM B. | AKBARI M.T. | Issue Writer Certificate

Keywords

RETINOBLASTOMAQ2

RB1 GENQ2

MUTATIONQ2

SPLICINGQ2

Abstract

Background and aims: MUTATIONs in RB1 GENe may lead to RETINOBLASTOMA which is the most common solid intraocular tumor in under-six year old children. To date, a wide spectrum of the MUTATIONs has been reported in the SPLICING ofRB1 which either affect SPLICING sequences or SPLICING regulatory elements. This report introduces a new MUTATION inRB1 and its influence on the SPLICING of mRNA.Case report: In the present survey, MUTATION analysis was done in an Iranian patient with sporadic unilateral RETINOBLASTOMA using direct sequencing and MLPA. Also, RB1 GENe SPLICING pattern was analyzed by RT-PCR method. As a result, a same-sense nucleotide change (g.70 320C>T) was found near the 5' end of exon 12. This alteration disrupts the consensus sequence of an exonic SPLICING enhancer and changes the binding site of SC-35 protein. Structural analysis of cDNA in this patient showed the disruption of normal SPLICING pattern and the skipping of exon 12 from theRB1 transcript.Conclusion: Based on these findings, it may be reasonable to conclude that the above nucleotide change could be a pathogenic MUTATION. Also, for the first time we report an evidence for the presence of an exonic SPLICING enhancer in the exon 12 of theRB1 gene.

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APA: Copy

AHANI, A., KHORAMKHORSHID, H.R., BEHNAM, B., & AKBARI, M.T.. (2012). REPORT OF A NOVEL MUTATION IN RB1 GENE FROM AN IRANIAN RETINOBLASTOMA PATIENT AND ITS EFFECT ON SPLICING PATTERN OF MRNA. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, 14(4), 88-95. SID. https://sid.ir/paper/58611/en

Vancouver: Copy

AHANI A., KHORAMKHORSHID H.R., BEHNAM B., AKBARI M.T.. REPORT OF A NOVEL MUTATION IN RB1 GENE FROM AN IRANIAN RETINOBLASTOMA PATIENT AND ITS EFFECT ON SPLICING PATTERN OF MRNA. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2012;14(4):88-95. Available from: https://sid.ir/paper/58611/en

IEEE: Copy

A. AHANI, H.R. KHORAMKHORSHID, B. BEHNAM, and M.T. AKBARI, “REPORT OF A NOVEL MUTATION IN RB1 GENE FROM AN IRANIAN RETINOBLASTOMA PATIENT AND ITS EFFECT ON SPLICING PATTERN OF MRNA,” JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, vol. 14, no. 4, pp. 88–95, 2012, [Online]. Available: https://sid.ir/paper/58611/en

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