{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["21(21)"],"submitter":["Cerasuolo A"],"pubmed_abstract":["Peutz-Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80-90% of cases by germline mutations in the tumor suppressor gene STK11. We performed a genetic test of the STK11 gene in two Italian young sisters suspected of PJS, since they showed pathognomonic café au lait spots in absence of other symptoms and familiarity. Sequencing of all exons of STK11 gene and other 8 genes, suggested to be involved in hamartomatous syndromes, (PTEN, BMPR1A, SDHB, SDHD, SMAD4, AKT1, ENG, PIK3CA) led to the identification in both the probands of a novel germline silent mutation named c.597 G>A, hitting the last nucleotide of exon 4. Interestingly, genetic testing of the two probands' parents showed that their unaffected father was carrier of this mutation. Moreover, he carried "],"journal":["International journal of molecular sciences"],"pagination":["E8201"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7662643"],"repository":["biostudies-literature"],"pubmed_title":["Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence."],"pmcid":["PMC7662643"],"pubmed_authors":["Cerasuolo A","Izzo P","Staiano A","Duraturo F","Martinelli M","Miele E","Cammarota F","De Rosa M"],"additional_accession":[]},"is_claimable":false,"name":"Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.","description":"Peutz-Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80-90% of cases by germline mutations in the tumor suppressor gene STK11. We performed a genetic test of the STK11 gene in two Italian young sisters suspected of PJS, since they showed pathognomonic café au lait spots in absence of other symptoms and familiarity. Sequencing of all exons of STK11 gene and other 8 genes, suggested to be involved in hamartomatous syndromes, (PTEN, BMPR1A, SDHB, SDHD, SMAD4, AKT1, ENG, PIK3CA) led to the identification in both the probands of a novel germline silent mutation named c.597 G>A, hitting the last nucleotide of exon 4. Interestingly, genetic testing of the two probands' parents showed that their unaffected father was carrier of this mutation. Moreover, he carried ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Nov","modification":"2025-04-04T14:55:36.242Z","creation":"2020-11-19T17:02:32Z"},"accession":"S-EPMC7662643","cross_references":{"pubmed":["33147782"],"doi":["10.3390/ijms21218201"]}}