ARHGEF18
Disease Category: autosomal recessive
Patient Population: < 5
Known Clinical Trials: None known
Treatment Options: None known
Strategies to Preserve Eye Health: None known
Institution(s) Conducting Research: None known
A FACE OF RP
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ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Gavin Arno, Keren J. Carss, Sarah Hull, Ceniz Zihni, Anthony G. Robson, Alessia Fiorentino, UK Inherited Retinal Disease Consortium, Alison J. Hardcastle, Graham E. Holder, Michael E. Cheetham, VIncent Plagnol, NIHR Bioresource - Rare Disease Consortium, Anthony T. Moore, F. Lucy Raymond, Karl Matter, Maria S. Balda, Andrew R. Webster, Published 2017 Jan 26
Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts
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