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Japanese Journal of Clinical Oncology Advance Access published online on October 16, 2006
Japanese Journal of Clinical Oncology, doi:10.1093/jjco/hyl107
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© 2006 Foundation for Promotion of Cancer Research
Received June 26, 2006
Accepted July 27, 2007

Cancer Genetics Report

PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping

Kanya Suphapeetiporn 1, Pradermchai Kongkam 2, Jarturon Tantivatana 3, Thivaratana Sinthuwiwat 1, Siraprapa Tongkobpetch 1, and Vorasuk Shotelersuk 4 *

1 Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand
2 Department of Internal Medicine, Chulalongkorn University, Bangkok, Thailand
3 Department of Radiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
4 Division of Medical Genetics and Metabolism, Department of Pediatrics, Chulalongkorn University, Sor Kor Building 11th floor, King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand

* To whom correspondence should be addressed.
Vorasuk Shotelersuk, E-mail: vorasuk.s{at}chula.ac.th


  Abstract

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.

Keywords: Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; nonsense mutations; exonic splicing enhancer.
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