PubMed:15710860 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15710860-0#33#37#gene1678","span":{"begin":462,"end":466},"obj":"gene1678"},{"id":"15710860-0#69#95#diseaseC0796074","span":{"begin":1128,"end":1154},"obj":"diseaseC0796074"}],"relations":[{"id":"33#37#gene167869#95#diseaseC0796074","pred":"associated_with","subj":"15710860-0#33#37#gene1678","obj":"15710860-0#69#95#diseaseC0796074"}],"text":"A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.\nBACKGROUND: X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia. So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions.\nOBJECTIVE: To investigate the presence of mutations in the DDP1 gene in a family with dystonia-deafness syndrome.\nDESIGN: Seven members belonging to 2 generations of a family with 2 affected subjects underwent genetic analysis. Mutational screening in the DDP1 gene was made through DNA direct sequencing.\nRESULTS: We found an intronic mutation in the DDP1 gene. It consists of an A-to-C substitution in the position -23 in reference to the first nucleotide of exon 2 (IVS1-23A\u003eC). The mutation was present in 2 affected men and their respective unaffected mothers, whereas it was absent in the healthy men from this family and in 90 healthy controls.\nCONCLUSIONS: Intronic mutations in the DDP1 gene can also cause X-linked dystonia-deafness syndrome. In our case, the effect of the mutation could be due to a splicing alteration."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1094,"end":1098},"obj":"gene:1678"},{"id":"T1","span":{"begin":1128,"end":1154},"obj":"disease:C0796074"}],"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":"A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.\nBACKGROUND: X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia. So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions.\nOBJECTIVE: To investigate the presence of mutations in the DDP1 gene in a family with dystonia-deafness syndrome.\nDESIGN: Seven members belonging to 2 generations of a family with 2 affected subjects underwent genetic analysis. Mutational screening in the DDP1 gene was made through DNA direct sequencing.\nRESULTS: We found an intronic mutation in the DDP1 gene. It consists of an A-to-C substitution in the position -23 in reference to the first nucleotide of exon 2 (IVS1-23A\u003eC). The mutation was present in 2 affected men and their respective unaffected mothers, whereas it was absent in the healthy men from this family and in 90 healthy controls.\nCONCLUSIONS: Intronic mutations in the DDP1 gene can also cause X-linked dystonia-deafness syndrome. In our case, the effect of the mutation could be due to a splicing alteration."}