title: ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.
abstract: 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.
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.|CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.|University College London Institute of Ophthalmology, London, UK.
authors: I
authors: I
authors: Audo
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.|Department of Medical Laboratory Sciences, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.
authors: S
authors: S
authors: El Shamieh
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
authors: C
authors: C
authors: Méjécase
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
authors: C
authors: C
authors: Michiels
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
authors: V
authors: V
authors: Demontant
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.|CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.
authors: A
authors: A
authors: Antonio
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
authors: C
authors: C
authors: Condroyer
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
authors: F
authors: F
authors: Boyard
authors: IntegraGen SA, Evry, France.
authors: M
authors: M
authors: Letexier
authors: IntegraGen SA, Evry, France.
authors: J-P
authors: JP
authors: Saraiva
authors: IntegraGen SA, Evry, France.
authors: S
authors: S
authors: Blanchard
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.|CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.
authors: S
authors: S
authors: Mohand-Saïd
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.|CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.|University College London Institute of Ophthalmology, London, UK.|Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.|Académie des Sciences-Institut de France, Paris, France.
authors: J-A
authors: JA
authors: Sahel
authors: Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
authors: C
authors: C
authors: Zeitz
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D020033:Protein Isoforms / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D014157:Transcription Factors; D000073359:Exome Sequencing
chemical_list: C485676:ARL2BP protein, human; D002352:Carrier Proteins; D020033:Protein Isoforms; D014157:Transcription Factors