A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene

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dc.authoridCEYLAN KOSE, CANAN/0000-0003-3789-2607
dc.authoridKaya, Derya/0000-0002-0948-7201
dc.authoridAkcan, Mehmet Berkay/0000-0003-0160-0377
dc.contributor.authorKaya, Derya
dc.contributor.authorKose, Canan Ceylan
dc.contributor.authorAkcan, Mehmet Berkay
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T21:07:48Z
dc.date.available2025-01-27T21:07:48Z
dc.date.issued2024
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBiallelic pathogenic variations in the zinc finger protein 142 (ZNF142) gene are associated with neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This disorder is characterized by developmental delay, intellectual disability, speech delay, and movement disorders such as dystonia, tremor, ataxia, and chorea. Here, we report a patient who exhibited common neurological features and rarely reported brain MRI findings. Exome sequencing identified a novel biallelic variant in ZNF142 (c.3528_3529delTG; p.C1176fs*5 (NM_001105537.4)). NEDISHM was first described by Khan et al. (2019) and has been reported in 39 patients to date. Furthermore, upon reviewing our in-house data covering 750 individuals, we identified three different pathogenic ZNF142 variants. It appears that the frequency of ZNF142 alleles is not as low as initially thought, suggesting that this gene should be included in new generation sequencing panels for similar clinical scenarios. Our goal is to compile and expand upon the clinical features observed in NEDISHM, providing novel insights and presenting a new variant to the literature. We also aim to demonstrate that ZNF142 pathogenic variants should be considered in neurodevelopmental diseases.
dc.identifier.doi10.1002/ajmg.a.63636
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.issue9
dc.identifier.pmid38655717
dc.identifier.scopus2-s2.0-85191176857
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.63636
dc.identifier.urihttps://hdl.handle.net/20.500.12428/28184
dc.identifier.volume194
dc.identifier.wosWOS:001207196600001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectNEDISHM
dc.subjectneurodevelopmental delay
dc.subjectspeech delay
dc.subjectZNF142
dc.titleA case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene
dc.typeArticle

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