| http://purl.uniprot.org/citations/20598277 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20598277 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20598277 | http://www.w3.org/2000/01/rdf-schema#comment | "Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. After performing X-exome capture and sequencing, we identified a mutation at the last nucleotide of exon 31 of the FLNA gene as the most likely cause of the disease. The variant c.5217G>A was found in six unrelated cases (three families and three sporadic cases) and was not found in 400 control X chromosomes, pilot data from the 1000 Genomes Project, or the FLNA gene variant database. In the families, the variant segregated with the disease, and it was transmitted four times from a mildly affected mother to a more seriously affected daughter. We show that, because of nonrandom X chromosome inactivation, the mutant allele was not expressed in patient fibroblasts. RNA expression of the mutant allele was detected only in cultured fibroma cells obtained from 15-year-old surgically removed material. The variant activates a cryptic splice site, removing the last 48 nucleotides from exon 31. At the protein level, this results in a loss of 16 amino acids (p.Val1724_Thr1739del), predicted to remove a sequence at the surface of filamin repeat 15. Our data show that TOD is caused by this single recurrent mutation in the FLNA gene."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.06.008"xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.06.008"xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Sun Y."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Sun Y."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Venselaar H."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Venselaar H."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Robertson S.P."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Robertson S.P."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Franco B."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Franco B."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Basel-Vanagaite L."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Basel-Vanagaite L."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "den Dunnen J.T."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "den Dunnen J.T."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Almomani R."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Almomani R."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Aten E."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Aten E."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Breuning M.H."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Breuning M.H."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Celli J."xsd:string |
| http://purl.uniprot.org/citations/20598277 | http://purl.uniprot.org/core/author | "Celli J."xsd:string |