Application of mutation site of pathogenic gene CFAP410 causing retinal dystrophy and detection reagent

The invention provides a mutation site c.144-1Ggt of a pathogenic gene CFAP410 causing retinal dystrophy, a mutation site c.144-1Ggt of a gene CFAP410 causing retinal Application of A and a diagnostic reagent belong to the technical field of gene diagnosis. According to the invention, by virtue of an exon group sequencing technology, it is found for the first time that CFAP410: NM004928.3: exon4: c.144-1Ggt; a site mutation causes retinal dystrophy (MIM 617547). The method comprises the following steps: detecting mutation c.144-1Ggt of a CFAP410 gene; the reagent A is used for screening or diagnosing the pathopoiesia of retinal dystrophy so as to guide the treatment of patients and help prenatal and postnatal care, a new basis and a new way are provided for the research on the pathogenesis of retinal dystrophy, a new theoretical basis is provided for the treatment of retinal dystrophy, and a possible drug target can be provided for the treatment of retinal dystrophy. 本发明提供了一种导致视网膜营养不良的致病基因CFAP410突变位点c.144-1G>