http://purl.uniprot.org/citations/25541840 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25541840 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25541840 | http://www.w3.org/2000/01/rdf-schema#comment | "ImportanceA 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.ObjectiveTo identify the cause of disease in families with nonsyndromic retinitis pigmentosa.Design, setting, and participantsPatients and family members were recruited for the study and underwent clinical evaluation and genetic analyses.Main outcomes and measuresIdentification of sequence variants in genes using next-generation sequencing.ResultsWe 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 relevanceOur study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.org/dc/terms/identifier | "doi:10.1001/jamaophthalmol.2014.5251"xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.org/dc/terms/identifier | "doi:10.1001/jamaophthalmol.2014.5251"xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Watson C.M."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Watson C.M."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Ali M."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Ali M."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Blumenfeld A."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Blumenfeld A."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Jalas C."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Jalas C."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Banin E."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Banin E."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Inglehearn C.F."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Inglehearn C.F."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "McKibbin M."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "McKibbin M."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Sharon D."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Sharon D."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Ben-Yosef T."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "Ben-Yosef T."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "El-Asrag M."xsd:string |
http://purl.uniprot.org/citations/25541840 | http://purl.uniprot.org/core/author | "El-Asrag M."xsd:string |