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We determined that 18\n                    <jats:underline>probands<\/jats:underline>\n                    who had heterozygous SNVs\/indels or whose parents were not consanguineous but had homozygous SNVs\/indels in autosomal recessive IRDs genes had CNVs in another allele of these genes, 11 families had disease-causing hemizygous CNVs in X-linked IRD genes, 6 families had (likely) pathogenic heterozygous CNVs in\n                    <jats:italic>PRPF31<\/jats:italic>\n                    gene. Of 35 families, 33 different CNVs in 16 IRD-associated genes were detected, with\n                    <jats:italic>PRPF31<\/jats:italic>\n                    ,\n                    <jats:italic>EYS<\/jats:italic>\n                    and\n                    <jats:italic>USH2A<\/jats:italic>\n                    the most common disease-causing gene in CNVs. Twenty-six and 7 of them were deletion and duplication CNVs, respectively. Among them, 14 CNVs were first reported in this study. Our research indicates that CNVs contribute a lot to IRDs, and screening of CNVs substantially increases the diagnostic rate of IRD. Our results\n                    <jats:underline>emphasize<\/jats:underline>\n                    that MLPA and QF-PCR are ideal methods to validate CNVs, and the novel CNVs reported herein expand the mutational spectrums of\n                    <jats:underline>IRDs<\/jats:underline>\n                    .\n                  <\/jats:p>","DOI":"10.1007\/s00439-023-02631-4","type":"journal-article","created":{"date-parts":[[2024,1,28]],"date-time":"2024-01-28T23:42:10Z","timestamp":1706485330000},"page":"197-210","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Screening copy number variations in 35 unsolved inherited retinal disease families"],"prefix":"10.1007","volume":"143","author":[{"given":"Xiaozhen","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hehua","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genlin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruixuan","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shicheng","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Hong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,29]]},"reference":[{"key":"2631_CR1","first-page":"384","volume":"12","author":"L Abu-Safieh","year":"2006","unstructured":"Abu-Safieh L, Vithana EN, Mantel I, Holder GE, Pelosini L, Bird AC, Bhattacharya SS (2006) A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. 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