{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:55:10Z","timestamp":1787849710143,"version":"build-2784847793"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,11,4]],"date-time":"2018-11-04T00:00:00Z","timestamp":1541289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001116","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","award":["C\u2010CMM\u20100907\u20100428\u2010INSERM04"],"award-info":[{"award-number":["C\u2010CMM\u20100907\u20100428\u2010INSERM04"]}],"id":[{"id":"10.13039\/100001116","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004792","name":"Minist\u00e8re de l'Enseignement Sup\u00e9rieur et de la Recherche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004792","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>Genetic investigations were performed in three brothers from a consanguineous union, the two oldest diagnosed with rod\u2010cone dystrophy (RCD), the youngest with early\u2010onset cone\u2010rod dystrophy and the two youngest with nephrotic\u2010range proteinuria. Targeted next\u2010generation sequencing did not identify homozygous pathogenic variant in the oldest brother. Whole exome sequencing (WES) applied to the family identified compound heterozygous variants in <jats:italic>CC2D2A<\/jats:italic> (c.2774G&gt;C p.(Arg925Pro); c.4730_4731delinsTGTATA p.(Ala1577Valfs*5)) in the three brothers with a homozygous deletion in <jats:italic>CNGA3<\/jats:italic> (c.1235_1236del p.(Glu412Valfs*6)) in the youngest correcting his diagnosis to achromatopsia plus RCD. None of the three subjects had cerebral abnormalities or learning disabilities inconsistent with Meckel\u2010Gruber and Joubert syndromes, usually associated with <jats:italic>CC2D2A<\/jats:italic> mutations. Interestingly, an African woman with RCD shared the <jats:italic>CC2D2A<\/jats:italic> missense variant (c.2774G&gt;C p.(Arg925Pro); with c.3182+355_3825del p.(?)). The two youngest also carried compound heterozygous variants in <jats:italic>CUBN<\/jats:italic> (c.7906C&gt;T rs137998687 p.(Arg2636*); c.10344C&gt;G p.(Cys3448Trp)) that may explain their nephrotic\u2010range proteinuria. Our study identifies for the first time <jats:italic>CC2D2A<\/jats:italic> mutations in isolated RCD and underlines the power of WES to decipher complex phenotypes.<\/jats:p>","DOI":"10.1111\/cge.13453","type":"journal-article","created":{"date-parts":[[2018,9,29]],"date-time":"2018-09-29T07:09:55Z","timestamp":1538204995000},"page":"329-333","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Whole exome sequencing resolves complex phenotype and identifies <i>CC2D2A<\/i> mutations underlying non\u2010syndromic rod\u2010cone dystrophy"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2532-4004","authenticated-orcid":false,"given":"C\u00e9cile","family":"M\u00e9j\u00e9case","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Hummel","sequence":"additional","affiliation":[{"name":"Department of Nephrology Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saddek","family":"Mohand\u2010Sa\u00efd","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"},{"name":"CHNO des Quinze\u2010Vingts, DHU Sight Restore, INSERM\u2010DGOS CIC 1423  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Andrieu","sequence":"additional","affiliation":[{"name":"CHNO des Quinze\u2010Vingts, DHU Sight Restore, INSERM\u2010DGOS CIC 1423  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8522-0445","authenticated-orcid":false,"given":"Said","family":"El Shamieh","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"},{"name":"Department of Medical Laboratory Technology, Faculty of Health Sciences Beirut Arab University  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Antonio","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"},{"name":"CHNO des Quinze\u2010Vingts, DHU Sight Restore, INSERM\u2010DGOS CIC 1423  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Condroyer","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Boyard","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris 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