ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant

Autor:	I, Audo, S, El Shamieh, C, Méjécase, C, Michiels, V, Demontant, A, Antonio, C, Condroyer, F, Boyard, M, Letexier, J-P, Saraiva, S, Blanchard, S, Mohand-Saïd, J-A, Sahel, C, Zeitz
Rok vydání:	2016
Předmět:	Cohort Studies Male RNA Splicing Mutation Exome Sequencing Humans Protein Isoforms Female Carrier Proteins Retinitis Pigmentosa Pedigree Transcription Factors
Zdroj:	Clinical genetics. 92(1)
ISSN:	1399-0004
Popis:	We report a novel ARL2BP splice site mutation after whole-exome sequencing (WES) applied to a Moroccan family including two sisters affected with autosomal recessive rod-cone dystrophy (arRCD). Subsequent analysis of 844 index cases did not reveal further pathogenic chances in ARL2BP indicating that mutations in ARL2B are a rare cause of arRCD (about 0.1%) in a large cohort of French patients.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::646e5b5e05418933fcbf22698f7a0b81 https://pubmed.ncbi.nlm.nih.gov/27790702 Zobrazit plný text záznamu Plný text