Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps. Jelsig, A. M., Rønlund, K., Gede, L. B., Frederiksen, J. H., Karstensen, J. G., Birkedal, U., & van Overeem Hansen, T. Journal of Human Genetics, 68(10):721–724, June, 2023. Number: 10 Publisher: Nature Publishing Group![Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex 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 \textgreater G(chr10, hg19), NM_000314.8:c.209 + 2047 A \textgreater 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.
@article{jelsig_identification_2023,
title = {Identification of a novel pathogenic deep intronic variant in {PTEN} resulting in pseudoexon inclusion in a patient with juvenile polyps},
volume = {68},
copyright = {2023 The Japan Society of Human Genetics},
issn = {1435-232X},
url = {https://www.nature.com/articles/s10038-023-01174-w},
doi = {10.1038/s10038-023-01174-w},
abstract = {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 {\textgreater} G(chr10, hg19), NM\_000314.8:c.209 + 2047 A {\textgreater} 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.},
language = {en},
number = {10},
urldate = {2023-10-18},
journal = {Journal of Human Genetics},
author = {Jelsig, Anne Marie and Rønlund, Karina and Gede, Lene Bjerring and Frederiksen, Jane Hübertz and Karstensen, John Gásdal and Birkedal, Ulf and van Overeem Hansen, Thomas},
month = jun,
year = {2023},
note = {Number: 10
Publisher: Nature Publishing Group},
keywords = {Alamut, Cancer genetics, Genotype},
pages = {721--724},
}
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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 \\textgreater G(chr10, hg19), NM_000314.8:c.209 + 2047 A \\textgreater 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. 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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 {\\textgreater} G(chr10, hg19), NM\\_000314.8:c.209 + 2047 A {\\textgreater} 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. 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