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It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a 60\u2010year\u2010old woman. The patient's DNA was investigated by targeted next generation sequencing followed by whole exome sequencing. A novel nonsense variant, c.267G&gt;A p.(Trp89*), was identified at a homozygous state in the proband in <jats:italic>REEP6<\/jats:italic> gene, recently reported mutated in 7 unrelated families with RCD. Further functional studies will help to understand the physiopathology associated with <jats:italic>REEP6<\/jats:italic> mutations that may be linked to a protein trafficking defect.<\/jats:p>","DOI":"10.1111\/cge.13171","type":"journal-article","created":{"date-parts":[[2017,11,9]],"date-time":"2017-11-09T10:50:46Z","timestamp":1510224646000},"page":"707-711","source":"Crossref","is-referenced-by-count":7,"title":["A novel nonsense variant in <i>REEP6<\/i> is involved in a sporadic rod\u2010cone dystrophy case"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2532-4004","authenticated-orcid":false,"given":"C.","family":"M\u00e9j\u00e9case","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS  Institut de la Vision, Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Mohand\u2010Sa\u00efd","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS  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