We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A novel nonsense variant in <italic>REEP6</italic> is involved in a sporadic rod‐cone dystrophy case.
- Authors
Méjécase, C.; Mohand‐saïd, S.; El Shamieh, S.; Antonio, A.; Condroyer, C.; Blanchard, S.; Letexier, M.; Saraiva, J.‐p.; Sahel, J.‐a.; Audo, I.; Zeitz, C.
- Abstract
Rod‐cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. 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‐year‐old woman. The patient's DNA was investigated by targeted next generation sequencing followed by whole exome sequencing. A novel nonsense variant, c.267G>A p.(Trp89*), was identified at a homozygous state in the proband in <italic>REEP6</italic> gene, recently reported mutated in 7 unrelated families with RCD. Further functional studies will help to understand the physiopathology associated with <italic>REEP6</italic> mutations that may be linked to a protein trafficking defect.
- Subjects
RETINITIS pigmentosa; NONSENSE mutation; EXOMES; NUCLEOTIDE sequencing; PATHOLOGICAL physiology
- Publication
Clinical Genetics, 2018, Vol 93, Issue 3, p707
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13171