Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

BMC Medical Genetics

Research Article

Marie-Elise Lancelot¹  Christina Zeitz¹  Kinga Bujakowska¹  Veselina Moskova-Doumanova¹  Saddek Mohand-Saïd²  Aline Antonio²  Isabelle Audo³  José-Alain Sahel³  Shomi S Bhattacharya⁴  Naushin H Waseem⁵ 

[1] INSERM, UMRS968, F-75012, Paris, France;UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, F-75012, Paris, France;CNRS, UMR_7210, F-75012, Paris, France;INSERM, UMRS968, F-75012, Paris, France;UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, F-75012, Paris, France;CNRS, UMR_7210, F-75012, Paris, France;Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, F-75012, Paris, France;INSERM, UMRS968, F-75012, Paris, France;UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, F-75012, Paris, France;CNRS, UMR_7210, F-75012, Paris, France;Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, F-75012, Paris, France;UCL-Institute of Ophthalmology, Bath Street, London, UK;INSERM, UMRS968, F-75012, Paris, France;UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, F-75012, Paris, France;CNRS, UMR_7210, F-75012, Paris, France;UCL-Institute of Ophthalmology, Bath Street, London, UK;UCL-Institute of Ophthalmology, Bath Street, London, UK;

关键词: Retinitis Pigmentosa;    Multiplex Ligation Dependent Probe Amplification;    Cystoid Macular Edema;    Retinal Degeneration;    Splice Site Mutation;   

DOI  :  10.1186/1471-2350-11-145

 received in 2010-05-21, accepted in 2010-10-12,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundRod-cone dystrophies are heterogeneous group of inherited retinal disorders both clinically and genetically characterized by photoreceptor degeneration. The mode of inheritance can be autosomal dominant, autosomal recessive or X-linked. The purpose of this study was to identify mutations in one of the genes, PRPF31, in French patients with autosomal dominant RP, to perform genotype-phenotype correlations of those patients, to determine the prevalence of PRPF31 mutations in this cohort and to review previously identified PRPF31 mutations from other cohorts.MethodsDetailed phenotypic characterization was performed including precise family history, best corrected visual acuity using the ETDRS chart, slit lamp examination, kinetic and static perimetry, full field and multifocal ERG, fundus autofluorescence imaging and optic coherence tomography. For genetic diagnosis, genomic DNA of ninety families was isolated by standard methods. The coding exons and flanking intronic regions of PRPF31 were PCR amplified, purified and sequenced in the index patient.ResultsWe showed for the first time that 6.7% cases of a French adRP cohort have a PRPF31 mutation. We identified in total six mutations, which were all novel and not detected in ethnically matched controls. The mutation spectrum from our cohort comprises frameshift and splice site mutations. Co-segregation analysis in available family members revealed that each index patient and all affected family members showed a heterozygous mutation. In five families incomplete penetrance was observed. Most patients showed classical signs of RP with relatively preserved central vision and visual field.ConclusionOur studies extended the mutation spectrum of PRPF31 and as previously reported in other populations, it is a major cause of adRP in France.

【 授权许可】

Unknown   
© Audo et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.