Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps
Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
Colorectal, hamartomatous juvenile polyps occur as part of different hereditary syndromes, including Juvenile polyposis syndrome and PTEN-hamartoma tumour syndrome. However, based on clinical manifestations alone, it is difficult to differentiate between the syndromes, and genetic analysis with an NGS-panel is often used to aid diagnostics. We report a 59-year-old male with colorectal juvenile polyps, who had been referred to genetic testing but had normal genetic analysis. He did not fulfil the clinical criteria of PTEN- hamartoma tumour syndrome, but the clinical criteria of Juvenile polyposis syndrome. With Whole Genome Sequencing we detected a novel intronic variant of unknown significance in PTEN (NC_000010.11:g.89687361 A > G(chr10, hg19), NM_000314.8:c.209 + 2047 A > G). RNA analysis classified the variant as likely pathogenic as it results in a pseudoexon inclusion introducing a frameshift and a premature stop codon. The patient was then diagnosed with PTEN-hamartoma Tumour syndrome. To our knowledge this is the first report of a variant resulting in pseudoexon inclusion in PTEN.
Originalsprog | Engelsk |
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Tidsskrift | Journal of Human Genetics |
Vol/bind | 68 |
Sider (fra-til) | 721-724 |
Antal sider | 4 |
ISSN | 1434-5161 |
DOI | |
Status | Udgivet - 2023 |
Bibliografisk note
Funding Information:
This project was funded by the Research Foundation from the University Hospital of Copenhagen, Rigshospitalet.
Publisher Copyright:
© 2023, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
ID: 362460888