| PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping. | |
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MedLine Citation:
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PMID: 17043057 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant disorder characterized by macrocephaly, intestinal hamartomatous polyps, lipomas and pigmented macules of the glans penis. We identified a Thai family affected with BRRS. In addition to typical manifestations of BRRS, the proband has a large hepatic AVM which is rarely found in BRRS. The molecular analysis revealed affected members were heterozygous for an exon skipping-associated nonsense mutation c.511C>T in the PTEN gene. The mutation was previously assumed to be deleterious by causing a change to a termination codon, Q171X. We, herein, found that another pathogenic effect was splicing related by disrupting a potential exonic splicing enhancer (ESE) and causing an entire exon 6 skipping. The results prompted us to investigate other reported missense/nonsense mutations in the PTEN gene. We found that they do not colocalize with ESE sites, suggesting that most of their pathogenic effects are not through ESE disruption. |
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Authors:
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Kanya Suphapeetiporn; Pradermchai Kongkam; Jarturon Tantivatana; Thivaratana Sinthuwiwat; Siraprapa Tongkobpetch; Vorasuk Shotelersuk |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2006-10-16 |
Journal Detail:
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Title: Japanese journal of clinical oncology Volume: 36 ISSN: 0368-2811 ISO Abbreviation: Jpn. J. Clin. Oncol. Publication Date: 2006 Dec |
Date Detail:
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Created Date: 2007-01-09 Completed Date: 2007-03-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0313225 Medline TA: Jpn J Clin Oncol Country: Japan |
Other Details:
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Languages: eng Pagination: 814-21 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Exons
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genetics* Female Hamartoma Syndrome, Multiple / diagnosis, genetics* Humans Male Middle Aged Mutation, Missense / genetics* PTEN Phosphohydrolase / genetics* Pedigree Phenotype RNA Splicing / genetics* Regulatory Sequences, Ribonucleic Acid / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Regulatory Sequences, Ribonucleic Acid; EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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