Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1

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dc.authorid0000-0001-9578-9611
dc.contributor.authorYeter, Burcu
dc.contributor.authorDemirkol, Yasemin Kendir
dc.contributor.authorUsluer, Esra
dc.contributor.authorOğuz, Sümeyra
dc.contributor.authorEser, Metin
dc.contributor.authorYarar, Murat Hakkı
dc.contributor.authorCanbek, Sezin
dc.date.accessioned2025-08-15T06:23:28Z
dc.date.available2025-08-15T06:23:28Z
dc.date.issued2025
dc.departmentFakülteler, Diş Hekimliği Fakültesi, Klinik Bilimler Bölümü
dc.description.abstractWiedemann-Steiner syndrome (WSS) is a rare autosomal dominant neurogenetic disorder caused by monallelic variants in KMT2A gene, characterized by neuromotor developmental delay, intellectual disability, microcephaly, seizures, behavioral disorders, dysmorphic facial features, hirsutism, and systemic anomalies. The KMT2A gene encodes a histone lysine methyltransferase crucial for the regulation of gene expression during early developmental stages. In this study, the clinical and molecular findings of 15 Turkish patients with WSS confirmed by whole exome sequencing are reported. Variant segregation was confirmed in all families. The ages of the patients were between 1.5 and 16 years. The majority of patients had neuromotor developmental delay, speech delay, and intellectual disability. The most frequently recognised dysmorphic facial features were thick eyebrows, long eyelashes, synophrys, hypertelorism, and broad nose. Other frequently observed clinical findings included short stature, congenital hypotonia, behavioral problems, genitourinary anomalies, and abnormal gait. Novel findings included focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma. Fifteen different KMT2A variants were detected, including 8 novel (p.Gln3594*, p.Glu1407Argfs*4, p.Ser610Ilefs*9, p.Ser2188Leufs*25, p.Glu970Glnfs*37, p.Ser759Valfs*22, p.Lys1346Serfs*24, and c.11146 + 1_11146 + 6delinsA) variants. Additionally, one patient exhibited a dual molecular diagnosis with a de novo variant in CSNK2A1, associated with Okur-Chung neurodevelopmental syndrome. Conclusion: This study expands the clinical and molecular spectrum of WSS, highlighting novel variants and unique manifestations. It emphasizes the importance of molecular testing in accurate diagnosis and management. By characterizing phenotypic diversity and dual diagnosis, this work contributes valuable insights for advancing clinical care and guiding future research. (Table presented.)
dc.identifier.citationBurcu Yeter, Yasemin Kendir Demirkol, Esra Usluer, Sümeyra Oğuz, Eser, M., Murat Hakkı Yarar, … Elcioglu, N. H. (2025). Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1. European Journal of Pediatrics, 184(8). ‌
dc.identifier.doi10.1007/s00431-025-06347-7
dc.identifier.issn03406199
dc.identifier.issue8
dc.identifier.pmid40742416
dc.identifier.scopus2-s2.0-105012311676
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://hdl.handle.net/20.500.12941/313
dc.identifier.volume184
dc.indekslendigikaynakScopus
dc.institutionauthorSezgin, Batın Ilgıt
dc.institutionauthorid0000-0001-9578-9611
dc.language.isoen
dc.publisherSpringer Science and Business Media Deutschland GmbH
dc.relation.ispartofEuropean Journal of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCSNK2A1
dc.subjectIntellectual disability
dc.subjectKMT2A
dc.subjectNeurodevelopmental delay
dc.subjectWiedemann-Steiner syndrome
dc.subjectZihinsel engellilik
dc.subjectNörogelişimsel gecikme
dc.subjectWiedemann-Steiner sendromu
dc.titleClinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1
dc.typeArticle

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