Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation (IMAGE)
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Figure 6. Mexican family carrying the truncated mutant pR552*.
(A) Pedigree Analysis: The family pedigree indicates that the father and all three sons present the disease. (B) Data from the family members RBTR4, carried the stop codon retinoblastoma mutation pR552*. (C) Sequence Alignments: A portion of the 17-exon sequence of the family demonstrates the change 1654 C>T, resulting in an anticipated stop codon instead of the normal Arginine (R). (D) The electropherogram of the sequence of a segment of the 17-exon region of the family reveals the mutation 1654 C>T.
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Copyright: © 2025 Peña-Balderas et al.
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