An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant

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dc.authoridUsluer, esra/0000-0003-4849-2078
dc.authorscopusid57224966548
dc.authorscopusid57219231261
dc.authorscopusid16641940600
dc.authorscopusid57833432500
dc.authorscopusid16038685000
dc.authorscopusid30367509300
dc.authorscopusid57970567100
dc.authorwosidUsluer, Esra/HTM-0082-2023
dc.contributor.authorUlker, Aylin Yuksel
dc.contributor.authorAlkaya, Dilek Uludag
dc.contributor.authorCaglayan, Ahmet Okay
dc.contributor.authorUsluer, Esra
dc.contributor.authorAykut, Ayca
dc.contributor.authorAslanger, Ayca
dc.contributor.authorVural, Mehmet
dc.date.accessioned2024-08-25T18:46:19Z
dc.date.available2024-08-25T18:46:19Z
dc.date.issued2023
dc.departmentEge Üniversitesien_US
dc.description.abstractOvergrowth-intellectual disability (OGID) syndromes are clinically and genetically heterogeneous group of disorders. The aim of this study was to examine the molecular etiology and long-term follow-up findings of Turkish OGID cohort. Thirty-five children with OGID were included in the study. Single gene sequencing, clinical exome analysis, chromosomal microarray analysis and whole exome sequencing were performed. Five pathogenic copy number variants were detected in the patients; three of them located on chromosome 5q35.2 (encompassing NSD1), others on 9q22.3 and 22q13.31. In 19 of 35 patients; we identified pathogenic variants in OGID genes associated with epigenetic regulation, NSD1 (n = 15), HIST1H1E (n = 1), SETD1B (n = 1), and SUZ12 (n = 2). The pathogenic variants in PIK3CA (n = 2), ABCC9 (n = 1), GPC4 (n = 2), FIBP (n = 1), and TMEM94 (n = 1) which had a role in other growth pathways were detected in seven patients. The diagnostic yield was 31/35(88%). Twelve pathogenic variants were novel. The common facial feature of the patients was prominent forehead. The patients with Sotos syndrome were observed to have milder intellectual disability than patients with other OGID syndromes. In conclusion, this study showed, for the first time, that biallelic variants of SUZ12 caused Imagawa-Matsumoto syndrome, monoallelic variants in SETDIB resulted in OGID. Besides expanded the phenotypes of very rare OGID syndromes caused by FIBP and TMEM94.en_US
dc.identifier.doi10.1002/ajmg.a.63180
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.pmid36919607en_US
dc.identifier.scopus2-s2.0-85150727743en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.63180
dc.identifier.urihttps://hdl.handle.net/11454/101868
dc.identifier.wosWOS:000949246100001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofAmerican Journal of Medical Genetics Part Aen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240825_Gen_US
dc.subjectCMAen_US
dc.subjectintellectual disabilityen_US
dc.subjectOGIDen_US
dc.subjectovergrowthen_US
dc.subjectWESen_US
dc.subjectSotos-Syndromeen_US
dc.subjectMutationsen_US
dc.subjectMicrodeletionen_US
dc.subjectFamilyen_US
dc.subjectGrowthen_US
dc.subjectGenesen_US
dc.subjectArrayen_US
dc.titleAn investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 varianten_US
dc.typeArticleen_US

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