Journal
JOURNAL OF HUMAN GENETICS
Volume 68, Issue 10, Pages 721-724Publisher
SPRINGERNATURE
DOI: 10.1038/s10038-023-01174-w
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A 59-year-old male with colorectal juvenile polyps was diagnosed with PTEN-hamartoma tumour syndrome through genetic analysis and whole genome sequencing. A novel intronic variant of unknown significance in PTEN was detected, leading to a pseudoexon inclusion that introduced a frameshift and a premature stop codon. This is the first report of a variant resulting in pseudoexon inclusion in PTEN.
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.
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