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Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Cells - 16 Mar 2024

Baz-Redón Noelia, Sánchez-Bellver Laura, Fernández-Cancio Mónica, Rovira-Amigo Sandra, Burgoyne Thomas, Ranjit Rai, Aquino Virginia, Toro-Barrios Noemí, Carmona Rosario, Polverino Eva, Cols Maria, Moreno-Galdó Antonio, Camats-Tarruella Núria, Marfany Gemma

Abstract excerpt

We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the RPGR variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia. The pathogenicity...

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Identifiers

PMID: 38534367
DOI: 10.3390/cells13060524
PMCID: PMC10968961

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