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Japanese Journal of Clinical Oncology Advance Access originally published online on October 16, 2006
Japanese Journal of Clinical Oncology 2006 36(12):814-821; doi:10.1093/jjco/hyl107
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© 2006 Foundation for Promotion of Cancer Research

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

Kanya Suphapeetiporn1, Pradermchai Kongkam2, Jarturon Tantivatana3, Thivaratana Sinthuwiwat1, Siraprapa Tongkobpetch1 and Vorasuk Shotelersuk1,

1 Department of Pediatrics
2 Internal Medicine
3 Radiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

For reprints and correspondence: Vorasuk Shotelersuk, Division of Medical Genetics and Metabolism, Department of Pediatrics, Sor Kor Building 11th floor, King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand. E-mail: vorasuk.s{at}chula.ac.th

Received June 26, 2006; accepted July 27, 2006

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.

Key Words: Bannayan • Riley • Ruvalcaba syndrome • Cowden syndrome • nonsense mutations • exonic splicing enhancer


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[Abstract] [Full Text] [PDF]


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