{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T13:16:18Z","timestamp":1775308578765,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T00:00:00Z","timestamp":1557792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To study the genetic aetiology and phenotypes of retinal degeneration (<jats:styled-content style=\"fixed-case\">RD<\/jats:styled-content>) in Finnish children born during 1993\u20132009.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Children with retinal degeneration (<jats:italic>N<\/jats:italic>\u00a0=\u00a068) were investigated during 2012\u20132014 with a targeted gene analysis or a next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) based gene panel. Also, a full clinical ophthalmological examination was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The cohort covered 44% (68\/153) of the Finnish children with inherited <jats:styled-content style=\"fixed-case\">RD<\/jats:styled-content> born 1993\u20132009. X\u2010linked retinoschisis, retinitis pigmentosa, Leber congenital amaurosis and cone\u2013rod dystrophy were the most common clinical diagnoses in the study group. Pathogenic mutations were found in 17 retinal genes. The molecular genetic aetiology was identified in 77% of the patients (in 77% of the families) analysed by <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> method. Several founder mutations were detected including three novel founder mutations c.148delG in <jats:italic><jats:styled-content style=\"fixed-case\">TULP<\/jats:styled-content>1<\/jats:italic>, c.2314C&gt;R (p.Gln772Ter) in <jats:italic><jats:styled-content style=\"fixed-case\">RPGRIP<\/jats:styled-content>1<\/jats:italic> and c.533G&gt;A (Trp178Ter) in <jats:italic><jats:styled-content style=\"fixed-case\">TYR<\/jats:styled-content><\/jats:italic>. We also confirmed the previous tentative finding of c.2944\u00a0+\u00a01delG in <jats:italic><jats:styled-content style=\"fixed-case\">GYCU<\/jats:styled-content>2D<\/jats:italic> being the most frequent cause of Leber congenital amaurosis (<jats:styled-content style=\"fixed-case\">LCA<\/jats:styled-content>) in Finland.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Globally, <jats:styled-content style=\"fixed-case\">RD<\/jats:styled-content> is genetically heterogeneous with over 260 disease genes reported so far. This was shown not to be the case in Finland, where the genetic aetiology of <jats:styled-content style=\"fixed-case\">RD<\/jats:styled-content> is caused by a small group of genes, due to several founder mutations that are enriched in the population. We found that X\u2010chromosomal retinoschisis constitutes the major group in Finnish paediatric <jats:styled-content style=\"fixed-case\">RD<\/jats:styled-content> population and is almost exclusively caused by two founder mutations. Several other founder mutations were detected including three novel founder mutations. All in all, the genetic aetiology of 77% of families was identified which is higher than previously reported from other populations, likely due to the specific genomic constitution of the Finns.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.14128","type":"journal-article","created":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T07:36:07Z","timestamp":1557819367000},"page":"805-814","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["The genetic aetiology of retinal degeneration in children in Finland \u2013 new founder mutations identified"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8304-0697","authenticated-orcid":false,"given":"Kristiina","family":"Avela","sequence":"first","affiliation":[{"name":"The Department of Clinical Genetics Helsinki University Hospital, HUSLAB Helsinki 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