PubMed:17033974 JSONTXT

{"project":"TEST-DiseaseOrPhenotypicFeature","denotations":[{"id":"T1","span":{"begin":86,"end":100},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":725,"end":740},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":1013,"end":1027},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":1175,"end":1189},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D000077765"},{"id":"A2","pred":"#label","subj":"T2","obj":"D009755"},{"id":"A3","pred":"#label","subj":"T3","obj":"D000077765"},{"id":"A4","pred":"#label","subj":"T4","obj":"D000077765"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

{"project":"TEST-ChemicalEntity","denotations":[{"id":"T1","span":{"begin":26,"end":33},"obj":"ChemicalEntity"},{"id":"T4","span":{"begin":102,"end":109},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":183,"end":190},"obj":"ChemicalEntity"},{"id":"T8","span":{"begin":363,"end":370},"obj":"ChemicalEntity"},{"id":"T10","span":{"begin":482,"end":489},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D002118"},{"id":"A2","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_29320"},{"id":"A3","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_22984"},{"id":"A4","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_17898"},{"id":"A5","pred":"ID:","subj":"T5","obj":"D002118"},{"id":"A6","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_29320"},{"id":"A7","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_22984"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D012172"},{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_15035"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D002118"},{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_29320"},{"id":"A12","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_22984"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

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{"project":"Test-SequenceVariant","denotations":[{"id":"T1","span":{"begin":825,"end":830},"obj":"SequenceVariant"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

{"project":"Test-GeneOrGeneProduct","denotations":[{"id":"T1","span":{"begin":26,"end":41},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":50,"end":58},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":183,"end":199},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":217,"end":223},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":297,"end":305},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":411,"end":417},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":450,"end":458},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":482,"end":497},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":523,"end":528},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":580,"end":588},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":839,"end":847},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":1098,"end":1106},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":1125,"end":1135},"obj":"GeneOrGeneProduct"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

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{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1098,"end":1106},"obj":"gene:93589"},{"id":"T1","span":{"begin":1175,"end":1189},"obj":"disease:C0730290"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":363,"end":396},"obj":"HP_0000479"},{"id":"T2","span":{"begin":363,"end":396},"obj":"HP_0007901"},{"id":"T3","span":{"begin":725,"end":740},"obj":"HP_0000662"},{"id":"T4","span":{"begin":731,"end":740},"obj":"HP_0000618"},{"id":"T5","span":{"begin":1155,"end":1174},"obj":"HP_0000007"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17033974-0#50#58#gene93589","span":{"begin":50,"end":58},"obj":"gene93589"},{"id":"17033974-0#86#100#diseaseC0730290","span":{"begin":86,"end":100},"obj":"diseaseC0730290"},{"id":"17033974-5#197#205#gene93589","span":{"begin":839,"end":847},"obj":"gene93589"},{"id":"17033974-5#83#98#diseaseC0028077","span":{"begin":725,"end":740},"obj":"diseaseC0028077"}],"relations":[{"id":"50#58#gene9358986#100#diseaseC0730290","pred":"associated_with","subj":"17033974-0#50#58#gene93589","obj":"17033974-0#86#100#diseaseC0730290"},{"id":"197#205#gene9358983#98#diseaseC0028077","pred":"associated_with","subj":"17033974-5#197#205#gene93589","obj":"17033974-5#83#98#diseaseC0028077"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":731,"end":740},"obj":"HP:0000618"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":86,"end":100},"obj":"ORDO:1871"},{"id":"AB1","span":{"begin":1013,"end":1027},"obj":"ORDO:1871"},{"id":"AB2","span":{"begin":1175,"end":1189},"obj":"ORDO:1871"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":823,"end":834},"obj":"DNAMutation:c|SUB|C|2406|A"}],"text":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.\nRetinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy."}