Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant

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dc.authoridGürkan, Hakan/0000-0002-8967-6124;
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidSANRI, ASLiHAN/ADL-6838-2022
dc.contributor.authorSanri, Aslihan
dc.contributor.authorGurkan, Hakan
dc.contributor.authorDemir, Selma
dc.date.accessioned2024-06-12T10:55:44Z
dc.date.available2024-06-12T10:55:44Z
dc.date.issued2020
dc.departmentTrakya Üniversitesien_US
dc.description.abstractCardiofaciocutaneous (CFC) syndrome is one of the developmental disorders caused by a dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway. RASopathies share overlapping clinical features, making the diagnosis challenging, especially in the newborn period. The majority of CFC syndrome cases arise by a mutation in the BRAF, MAP2K1, MAP2K2, or (rarely) KRAS genes. Germline KRAS mutations are identified in a minority of CFC and Noonan syndrome cases. Here, we describe a patient with a KRAS mutation presenting with a CFC syndrome phenotype. The female patient was referred for genetic testing because of congenital exophthalmos. Her facial appearance is distinctive with a coarse face, exophthalmos, ptosis, downslanting palpebral fissures, hypertelorism, deep philtrum, downturned corners of the mouth, and a short neck. She suffered from feeding difficulties, poor weight gain, and developmental delay. The sequencing of the genes involved in the MAPK pathway (PTPN11, SOS1, RAF1, KRAS, NRAS, MAP2K1, SHOC2, CBL, and SPRED1) identified a heterozygous de novo NM_004985.4:c.173C>T (p.Thr58Ile) in the KRAS gene. Germline KRAS mutations have been identified in approximately 2% of the reported NS cases and less than 5% of the reported CFC syndrome cases. Because CFC and Noonan syndrome share clinical overlapping features, the phenotype caused by KRAS mutations is often difficult to assign to one of the 2 entities. The mutation that we detected in our patient was previously reported in a patient with an Noonan syndrome phenotype. However, our patient predominantly exhibits CFC clinical features. In our case, coarse facial appearance and severe developmental delay help discriminate CFC from Noonan syndrome. Thus, patient follow-up, especially for delayed motor milestones suspected from RASopathies, is important for the discrimination of overlapping conditions as in the abovementioned syndromes.en_US
dc.identifier.doi10.1159/000504374
dc.identifier.endpage347en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue6en_US
dc.identifier.pmid32021610en_US
dc.identifier.scopus2-s2.0-85075895053en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage344en_US
dc.identifier.urihttps://doi.org/10.1159/000504374
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19538
dc.identifier.volume10en_US
dc.identifier.wosWOS:000508845700009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCardiofaciocutaneous Syndromeen_US
dc.subjectKRASen_US
dc.subjectNoonan Syndromeen_US
dc.subjectRasopathiesen_US
dc.subjectMutationsen_US
dc.titleCardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Varianten_US
dc.typeArticleen_US

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