WDR19: A retrograde intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa (arRP) and in Senior Loken Syndrome (SLS).


CONCLUSION: We identified a new gene for both arRP and SLS. WDR19 is a ciliary protein associated with the intra-flagellar transport machinery. We are currently investigating the full extent of the mutation spectrum. Our findings are crucial in expanding the understanding of childhood blindness and identifying new genes.
PMID: 23683095 [PubMed – as supplied by publisher] (Source: Clinical Genetics)