Shevach, E, Ali, M orcid.org/0000-0003-3204-3788, Mizrahi-Meissonnier, L et al. (9 more authors) (2015) Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa. JAMA Ophthalmology, 133 (3). pp. 312-318. ISSN 2168-6165
Abstract
Importance: A large number of genes can cause inherited retinal degenerations when mutated. It is important to identify the cause of disease for a better disease prognosis and a possible gene-specific therapeutic intervention. Objective: To identify the cause of disease in families with nonsyndromic retinitis pigmentosa. Design, setting, and participants: Patients and family members were recruited for the study and underwent clinical evaluation and genetic analyses. Main outcomes and measures: Identification of sequence variants in genes using next-generation sequencing. Results: We performed exome sequencing for 4 families, which was followed by Sanger sequencing of the identified mutations in 120 ethnicity-matched patients. In total, we identified 4 BBS2 missense mutations that cause nonsyndromic retinitis pigmentosa. Three siblings of Moroccan Jewish ancestry were compound heterozygotes for p.A33D and p.P134R, and 6 patients belonging to 4 families of Ashkenazi Jewish ancestry were homozygous for either p.D104A or p.R632P, or compound heterozygous for these 2 mutations. The mutations cosegregated with retinitis pigmentosa in the studied families, and the affected amino acid residues are evolutionarily conserved. Conclusions and relevance: Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 08 Oct 2015 14:47 |
Last Modified: | 09 Apr 2021 11:30 |
Published Version: | http://dx.doi.org/10.1001/jamaophthalmol.2014.5251 |
Status: | Published |
Publisher: | American Medical Association |
Identification Number: | 10.1001/jamaophthalmol.2014.5251 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:87387 |