THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME

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dc.authoridToksoy, Güven/0000-0002-8103-9980
dc.authoridYüksel, Atıl/0000-0002-6487-0860
dc.authoridHas, Recep/0000-0002-1372-8506
dc.authoridUYGUNER, OYA Zehra/0000-0002-2035-4338
dc.authorwosidToksoy, Güven/X-5420-2018
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidSivrikoz, Tugba Sarac/O-6868-2019
dc.authorwosidYüksel, Atıl/AAE-5442-2020
dc.authorwosidHas, Recep/D-4717-2019
dc.authorwosidUYGUNER, OYA Zehra/Y-3899-2018
dc.contributor.authorToksoy, Guven
dc.contributor.authorTepgec, Fatih
dc.contributor.authorSarac Sivrikoz, Tugba
dc.contributor.authorKalelioglu, Ibrahim Halil
dc.contributor.authorDemir, Selma
dc.contributor.authorHas, Recep
dc.contributor.authorYuksel, Atil
dc.date.accessioned2024-06-12T11:13:06Z
dc.date.available2024-06-12T11:13:06Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: Dominant pathogenic variants in 29 RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) pathway genes, important for the regulation of cell growth, differentiation, aging and cell-cycle, are responsible for RASopathies, Noonan syndrome (NS) is the most common form. PTPN11 variants are detected in 50% of the cases, 90% being identified in the first SH2 and in the catalytic domain at the N- and C-terminals of the peptide, respectively. Increased nuchal translucency (NT), lymphatic system anomalies (cystic hygroma, pleural effusion, ascites), cardiac anomalies, polyhydramnios, short limb and macrocephaly are the NS-associated prenatal findings. PTPN11 association is reported in 2-3% of normal karyotyped fetuses with NT and in >10% when other NS findings are included. Material and Method: PTPN11 analysis with different approaches in 246 normal karyotyped prenatal cases with NS-associated USG findings were retrospectively evaluated. The targeted PTPN11 regions in 200 and the whole gene structure of 46 cases were examined by Sanger sequencing. Results: Pathogenic variants, including two novel variants (p.P107S and p.M504T), were identified in two fetuses with isolated NT and in three fetuses with multiple USG findings, leading to a 2% of detection rate, all found in targeted exons. Two of six cases, further investigated for targets of four Rasopathy genes, had causative genes in SOS1. One of three terminated fetuses, investigated for the targeted-gene panel, had a causative gene in RAF1 genes. Both the isolated NT and multiple USG finding groups revealed an equal detection rate of 2.3%. Discussion: PTPN11 is responsible for 50% of RASopathies and 90% of the pathogenic variants are delineated in the targeted exons. The rational, cost-effective approach for the clarification of the genetic basis of RASopathies is screening the addressed exons of PTPN11 followed by the other exons and other RASopathy related genes.en_US
dc.identifier.doi10.26650/IUITFD.2020.803356
dc.identifier.endpage39en_US
dc.identifier.issn1305-6441
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85130339380en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage34en_US
dc.identifier.trdizinid409236en_US
dc.identifier.urihttps://doi.org/10.26650/IUITFD.2020.803356
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/409236
dc.identifier.urihttps://hdl.handle.net/20.500.14551/23423
dc.identifier.volume84en_US
dc.identifier.wosWOS:000629740900005en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isotren_US
dc.publisherIstanbul Univ, Fac Medicine, Publ Offen_US
dc.relation.ispartofJournal Of Istanbul Faculty Of Medicine-Istanbul Tip Fakultesi Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPTPN11en_US
dc.subjectNoonan Syndromeen_US
dc.subjectIncreased Nuchal Translucencyen_US
dc.subjectCystic Hygromaen_US
dc.subjectPleural Effusionen_US
dc.subjectGenotype-Phenotype Correlationen_US
dc.subjectProtein-Tyrosine-Phosphataseen_US
dc.subjectMutationsen_US
dc.subjectSpectrumen_US
dc.subjectFeaturesen_US
dc.subjectChildrenen_US
dc.subjectPhosphorylationen_US
dc.subjectPredictionen_US
dc.subjectSequenceen_US
dc.subjectFetusesen_US
dc.titleTHE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROMEen_US
dc.typeArticleen_US

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