Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

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dc.contributor.authorHyvönen, Hanna
dc.contributor.authorKettunen, Kaisa
dc.contributor.authorAvela, Kristiina
dc.contributor.authorKivirikko, Sirpa
dc.contributor.authorJeskanen, Leila
dc.contributor.authorSuominen, Sinikka
dc.contributor.authorSalminen, Päivi
dc.contributor.authorHannula‐Jouppi, Katariina
dc.contributor.organizationfi=biolääketieteen laitos|en=Institute of Biomedicine|
dc.contributor.organizationfi=tyks, vsshp|en=tyks, varha|
dc.contributor.organization-code1.2.246.10.2458963.20.77952289591
dc.converis.publication-id477261590
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/477261590
dc.date.accessioned2025-08-27T23:53:55Z
dc.date.available2025-08-27T23:53:55Z
dc.description.abstractWe report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients. These findings corroborate the evidence of SFM syndrome being a mosaic RASopathy, broaden the phenotypic spectrum of oculocutaneous mosaic RASopathies, and indicate SFM syndrome as a continuum of the OES-ECCL disorder spectrum.
dc.identifier.eissn1525-1470
dc.identifier.jour-issn0736-8046
dc.identifier.olddbid204825
dc.identifier.oldhandle10024/187852
dc.identifier.urihttps://www.utupub.fi/handle/11111/53514
dc.identifier.urlhttps://doi.org/10.1111/pde.15820
dc.identifier.urnURN:NBN:fi-fe2025082786579
dc.language.isoen
dc.okm.affiliatedauthorAvela, Kristiina
dc.okm.affiliatedauthorDataimport, tyks, vsshp
dc.okm.discipline3111 Biomedicineen_GB
dc.okm.discipline3123 Gynaecology and paediatricsen_GB
dc.okm.discipline3111 Biolääketieteetfi_FI
dc.okm.discipline3123 Naisten- ja lastentauditfi_FI
dc.okm.internationalcopublicationnot an international co-publication
dc.okm.internationalityInternational publication
dc.okm.typeA1 ScientificArticle
dc.publisherWiley
dc.publisher.countryUnited Statesen_GB
dc.publisher.countryYhdysvallat (USA)fi_FI
dc.publisher.country-codeUS
dc.relation.doi10.1111/pde.15820
dc.relation.ispartofjournalPediatric Dermatology
dc.source.identifierhttps://www.utupub.fi/handle/10024/187852
dc.titleMosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features
dc.year.issued2024

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