Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

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dc.contributor.authorColombo, Elisa Adele
dc.contributor.authorMutlu-Albayrak, Hatice
dc.contributor.authorShafeghati, Yousef
dc.contributor.authorBalasar, Mine
dc.contributor.authorPiard, Juliette
dc.contributor.authorGentilini, Davide
dc.contributor.authorDi Blasio, Anna Maria
dc.date.accessioned2024-02-23T14:34:59Z
dc.date.available2024-02-23T14:34:59Z
dc.date.issued2019
dc.departmentNEÜen_US
dc.description.abstractBaller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abnormalities which may include craniosynostosis. We aimed at unveiling the genetic lesions underpinning the phenotype of two unrelated children with a presumptive BGS diagnosis: patient 1 is a Turkish girl with short stature, microcephaly, craniosynostosis, seizures, intellectual disability, midface hemangioma, bilateral radial and thumb aplasia, tibial hypoplasia, and pes equinovarus. Patient 2 is an Iranian girl born to consanguineous parents with craniosynostosis, micrognathism, bilateral radial aplasia, thumbs, and foot deformity in the context of developmental delay. Upon negative RECQL4 test, whole exome sequencing (WES) analysis performed on the two trios led to the identification of two different ESCO2 homozygous inactivating variants: a previously described c.1131+1G> A transition in patient 1 and an unreported deletion, c.417de1, in patient 2, thus turning the diagnosis into Roberts syndrome. The occurrence of a Baller-Gerold phenotype in two unrelated patients that were ultimately diagnosed with RBS demonstrates the strength of WES in redefining the nosological landscape of rare congenital malformation syndromes, a premise to yield optimized patients management and family counseling.en_US
dc.description.sponsorshipItalian Ministry of Health [08C624]en_US
dc.description.sponsorshipThis work was supported by Italian Ministry of Health to Istituto Auxologico Italiano (Ricerca Corrente 08C624 to LL).en_US
dc.identifier.doi10.3389/fped.2019.00210
dc.identifier.issn2296-2360
dc.identifier.pmid31192177en_US
dc.identifier.scopus2-s2.0-85067429566en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.3389/fped.2019.00210
dc.identifier.urihttps://hdl.handle.net/20.500.12452/15841
dc.identifier.volume7en_US
dc.identifier.wosWOS:000469296900002en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFrontiers Media Saen_US
dc.relation.ispartofFrontiers In Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectRoberts Syndromeen_US
dc.subjectBaller-Gerold Syndromeen_US
dc.subjectRecql4en_US
dc.subjectEsco2en_US
dc.subjectPatient Managementen_US
dc.subjectGenetic Counselingen_US
dc.subjectDifferential Diagnosisen_US
dc.titlePhenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutationsen_US
dc.typeArticleen_US

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