A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review

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dc.contributor.authorAtes, Kubra
dc.contributor.authorOzturk, Murat
dc.contributor.authorEsener, Zeynep
dc.contributor.authorSigirci, Ahmet
dc.contributor.authorTekedereli, Ibrahim
dc.date.accessioned2026-04-04T13:33:16Z
dc.date.available2026-04-04T13:33:16Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstractIntroduction: Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare multisystemic congenital disorder caused by SON gene variants. This study aimed to present the results of whole exome sequencing, and describe some rare findings observed in the proband. Case Presentation: An 11-year-old boy exhibited hypotonia, poor growth, short stature, and microcephaly. The patient displayed various neurological symptoms, such as developmental delay, seizures, hydrocephalus, and brain abnormalities. He presented with strabismus, urinary problems, and facial dysmorphism. A history of stroke, obsession, insomnia, self-injurious behavior, and hearing loss was also noted. Based on the patient's clinical findings, whole exome sequencing was performed. A novel variant in the SON gene was identified. This variant was confirmed by Sanger sequencing. Notably, the parents tested normal for the variant. Conclusion: This study presents a patient who exhibited a wide range of behavioral abnormalities, stroke, and recurrent urolithiasis - features that are rarely reported in ZTTK syndrome - and includes a review of the literature.
dc.identifier.doi10.1159/000546621
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.orcid0000-0002-0669-8230
dc.identifier.pmid40636265
dc.identifier.scopus2-s2.0-105010759258
dc.identifier.scopusqualityQ4
dc.identifier.urihttps://doi.org/10.1159/000546621
dc.identifier.urihttps://hdl.handle.net/11616/109048
dc.identifier.wosWOS:001525144400001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherKarger
dc.relation.ispartofMolecular Syndromology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectDelins variant
dc.subjectDevelopmental delay
dc.subjectIntellectual disability
dc.subjectSON
dc.subjectZhu-Tokita-Takenouchi-Kim syndrome
dc.titleA Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review
dc.typeArticle

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