Which gene mutation is classically associated with congenital aniridia?

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Multiple Choice

Which gene mutation is classically associated with congenital aniridia?

Explanation:
PAX6 mutations are classically linked to congenital aniridia. PAX6 encodes a transcription factor essential for early eye development, and when its function is reduced (haploinsufficiency), iris formation is disrupted, leading to absence or severe underdevelopment of the iris seen in congenital aniridia. This condition is sometimes part of WAGR syndrome when a larger deletion includes WT1. The other genes listed are associated with different ocular conditions: PAX3 with Waardenburg syndrome (pigmentary anomalies and sometimes deafness), PAX2 with renal-coloboma syndrome (kidney anomalies with optic nerve/eye findings), and FOXC1 with anterior segment dysgenesis and related glaucoma.

PAX6 mutations are classically linked to congenital aniridia. PAX6 encodes a transcription factor essential for early eye development, and when its function is reduced (haploinsufficiency), iris formation is disrupted, leading to absence or severe underdevelopment of the iris seen in congenital aniridia. This condition is sometimes part of WAGR syndrome when a larger deletion includes WT1. The other genes listed are associated with different ocular conditions: PAX3 with Waardenburg syndrome (pigmentary anomalies and sometimes deafness), PAX2 with renal-coloboma syndrome (kidney anomalies with optic nerve/eye findings), and FOXC1 with anterior segment dysgenesis and related glaucoma.

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