To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1.
Observations:
A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype.
Conclusions:
The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.
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