<i>ARL2BP</i> mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant

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

doi:10.1111/cge.12909

Letter to the Editor
ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant

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

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Clinical Genetics > 92 > 1 > 109 - 111

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.

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journal ISSN :	0009-9163
journal e-ISSN :	1399-0004
DOI	10.1111/cge.12909

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I. Audo

Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision
CHNO des Quinze‐Vingts, DHU Sight Restore, INSERM‐DHOS CIC1423
University College London Institute of Ophthalmology

S. El Shamieh

Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision
Department of Medical Laboratory Sciences, Faculty of Health Sciences, Beirut Arab University

C. Méjécase

Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision

C. Michiels

Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision

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Blackwell Publishing Ltd

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I. Audo

S. El Shamieh

C. Méjécase

C. Michiels

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Letter to the Editor
ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant