Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps
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Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps. / Jelsig, Anne Marie; Rønlund, Karina; Gede, Lene Bjerring; Frederiksen, Jane Hübertz; Karstensen, John Gásdal; Birkedal, Ulf; Hansen, Thomas van Overeem.
I: Journal of Human Genetics, Bind 68, 2023, s. 721-724.Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
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TY - JOUR
T1 - Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps
AU - Jelsig, Anne Marie
AU - Rønlund, Karina
AU - Gede, Lene Bjerring
AU - Frederiksen, Jane Hübertz
AU - Karstensen, John Gásdal
AU - Birkedal, Ulf
AU - Hansen, Thomas van Overeem
N1 - Publisher Copyright: © 2023, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
U2 - 10.1038/s10038-023-01174-w
DO - 10.1038/s10038-023-01174-w
M3 - Letter
C2 - 37336910
AN - SCOPUS:85162087139
VL - 68
SP - 721
EP - 724
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
ER -
ID: 362460888