| http://purl.uniprot.org/citations/25574841 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25574841 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25574841 | http://www.w3.org/2000/01/rdf-schema#comment | "Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be "transcriptomopathies" rather than cohesinopathies."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci77435"xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci77435"xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Gibbs R.A."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Gibbs R.A."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Gu S."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Gu S."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Muzny D.M."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Muzny D.M."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Patel N."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Patel N."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Lupski J.R."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Lupski J.R."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Yuan B."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Yuan B."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Aydin H."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Aydin H."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Boerwinkle E."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Boerwinkle E."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Charng W.L."xsd:string |
| http://purl.uniprot.org/citations/25574841 | http://purl.uniprot.org/core/author | "Charng W.L."xsd:string |