期刊
HUMAN MUTATION
卷 39, 期 7, 页码 887-913出版社
WILEY
DOI: 10.1002/humu.23431
关键词
inherited retinal dystrophy; MERTK; mutation spectrum; mutation prevalence
资金
- Fondation Voir et Entendre
- LABEX LIFESENSES [ANR-10-LABX-65]
- Agence Nationale de la Recherche within the Investissements d'Avenir program [ANR-11-IDEX-0004-0]
- Foundation Fighting Blindness center grant [C-C-CL-0912-0600-INSERM01, GE-0912-0601-INSERM02]
- Prix de la Fondation de l'OEil
- Ministere de l'Enseignement Superieur et de la Recherche (MESR)
MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. We present here a comprehensive review of all reported MERTK disease causing variants with the associated phenotype. In addition, we provide further data and insights of a large cohort of 1,195 inherited retinal dystrophies (IRD) index cases applying state-of-the-art genotyping techniques and summarize current knowledge. A total of 79 variants have now been identified underlying rod-cone dystrophy and cone-rod dystrophy including 11 novel variants reported here. The mutation spectrum in MERTK includes 33 missense, 12 nonsense, 12 splice defects, 12 small deletions, two small insertion-deletions, three small duplications, and two exonic and three gross deletions. Altogether, mutations in MERTK account for similar to 2% of IRD cases with a severe retinal phenotype. These data are important for current and future therapeutic trials including gene replacement therapy or cell-based therapy.
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