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

doi:10.1111/cge.12909

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

Clin Genet. 2017 Jul;92(1):109-111. doi: 10.1111/cge.12909. Epub 2017 Feb 6.

Authors

I Audo^{1

2

3}, S El Shamieh^{1

4}, C Méjécase¹, C Michiels¹, V Demontant¹, A Antonio^{1

2}, C Condroyer¹, F Boyard¹, M Letexier⁵, J-P Saraiva⁵, S Blanchard⁵, S Mohand-Saïd^{1

2}, J-A Sahel^{1

2

3

6

7}, C Zeitz¹

Affiliations

¹ Department of Genetics, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
² CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.
³ University College London Institute of Ophthalmology, London, UK.
⁴ Department of Medical Laboratory Sciences, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.
⁵ IntegraGen SA, Evry, France.
⁶ Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
⁷ Académie des Sciences-Institut de France, Paris, France.

PMID: 27790702
DOI: 10.1111/cge.12909

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.

Publication types

Letter

MeSH terms

Carrier Proteins / genetics*
Cohort Studies
Exome Sequencing
Female
Humans
Male
Mutation
Pedigree
Protein Isoforms / genetics*
RNA Splicing / genetics*
Retinitis Pigmentosa / genetics*
Retinitis Pigmentosa / physiopathology
Transcription Factors

Substances

ARL2BP protein, human
Carrier Proteins
Protein Isoforms
Transcription Factors