A 4-year-old girl with an inwardly deviated right eye is brought to the clinic. In comparison to the left eye, the right eye exhibits a paler red response upon examination. The retina contains a well-circumscribed white mass, as seen on dilated funduscopic examination. Genetic testing reveals that the mass was caused by a germline mutation in the patient's cells. Which of the following is the most likely function of the protein affected by this patient's gene mutation?

Question

A 4-year-old girl with an inwardly deviated right eye is brought to the clinic. In comparison to the left eye, the right eye exhibits a paler red response upon examination. The retina contains a well-circumscribed white mass, as seen on dilated funduscopic examination. Genetic testing reveals that the mass was caused by a germline mutation in the patient's cells.   Which of the following is the most likely function of the protein affected by this patient's gene mutation?

Quizplus · Accepted Answer

Eductional Objective: The RB1 tumor suppressor gene, which ordinarily prevents cells from passing the G1/S checkpoint until the cell is prepared to divide, is linked to retinoblastoma through inactivating mutations. Rb protein dysfunction permits free passage through the G1/S checkpoint, which triggers uncontrollable cell division.

A 4-Year-Old Girl with an Inwardly Deviated Right Eye Is