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A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings | Synapse

April 19, 2026Ophthalmic Genetics0 citations

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A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings

DTDominic S. Ting GHGraham E. Holder MTMelissa C. Tien

Puntos clave

To report and analyze genetic variants in the CEP78 gene linked to rod-cone dystrophy in two siblings.
Clinical assessment of siblings.
Genetic sequencing to identify variants in the CEP78 gene.
Evaluation of variant classification based on current guidelines.
Identification of a novel CEP78 variant in one sibling.
Reclassification of the other variant from VUS to pathogenic based on new data.

Resumen

This report describes two siblings with RCD due to compound heterozygous variants in the CEP78 gene; one novel, the other currently classified as VUS. The data presented herein support the latter being reclassified as pathogenic.

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Cite This Study

Ting et al. (Thu,) studied this question.

synapsesocial.com/papers/69e470e9010ef96374d8db6d https://doi.org/https://doi.org/10.1080/13816810.2026.2652568