| pubmed-article:19572402 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19572402 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:19572402 | lifeskim:mentions | umls-concept:C0242387 | lld:lifeskim |
| pubmed-article:19572402 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:19572402 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:19572402 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:19572402 | lifeskim:mentions | umls-concept:C1420654 | lld:lifeskim |
| pubmed-article:19572402 | lifeskim:mentions | umls-concept:C1519323 | lld:lifeskim |
| pubmed-article:19572402 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:19572402 | pubmed:dateCreated | 2009-7-30 | lld:pubmed |
| pubmed-article:19572402 | pubmed:abstractText | Interpretation of the pathogenicity of sequence alterations in disease-associated genes is challenging. This is especially true for novel alterations that lack obvious functional consequences. We report here on a patient with Treacher Collins syndrome (TCS) found to carry a previously reported mutation, c.122C > T, which predicts p.A41V, and a novel synonymous mutation, c.3612A > C. Pedigree analysis showed that the c.122C > T mutation segregated with normal phenotypes in multiple family members while the c.3612A > C was de novo in the patient. Analysis of TCOF1 RNA in lymphocytes showed a transcript missing exon 22. These results show that TCS in the patient is due to haploinsufficiency of TCOF1 caused by the synonymous de novo c.3612A > C mutation. This study highlights the importance of clinical and pedigree evaluation in the interpretation of known and novel sequence alterations. | lld:pubmed |
| pubmed-article:19572402 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19572402 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19572402 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19572402 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19572402 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19572402 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19572402 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19572402 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19572402 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:19572402 | pubmed:issn | 1552-4833 | lld:pubmed |
| pubmed-article:19572402 | pubmed:author | pubmed-author:CuttingG RGR | lld:pubmed |
| pubmed-article:19572402 | pubmed:author | pubmed-author:MendelsohnN... | lld:pubmed |
| pubmed-article:19572402 | pubmed:author | pubmed-author:HefferonT WTW | lld:pubmed |
| pubmed-article:19572402 | pubmed:author | pubmed-author:AudlinSS | lld:pubmed |
| pubmed-article:19572402 | pubmed:author | pubmed-author:RoggenbuckJJ | lld:pubmed |
| pubmed-article:19572402 | pubmed:author | pubmed-author:KatsanisS HSH | lld:pubmed |
| pubmed-article:19572402 | pubmed:author | pubmed-author:MacayaDD | lld:pubmed |
| pubmed-article:19572402 | pubmed:copyrightInfo | 2009 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:19572402 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19572402 | pubmed:volume | 149A | lld:pubmed |
| pubmed-article:19572402 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19572402 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19572402 | pubmed:pagination | 1624-7 | lld:pubmed |
| pubmed-article:19572402 | pubmed:meshHeading | pubmed-meshheading:19572402... | lld:pubmed |
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| pubmed-article:19572402 | pubmed:meshHeading | pubmed-meshheading:19572402... | lld:pubmed |
| pubmed-article:19572402 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19572402 | pubmed:articleTitle | A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. | lld:pubmed |
| pubmed-article:19572402 | pubmed:affiliation | Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA. | lld:pubmed |
| pubmed-article:19572402 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19572402 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19572402 | lld:pubmed |
