Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings
Background/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID)....
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2025-01-01
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| author | Michele Minerva Lorenzo Perilli Samanta Carbone Margherita Maria Rossi Federica Lotti Luisa Lonoce Maria Rosaria Curcio Salvatore Grosso |
| author_facet | Michele Minerva Lorenzo Perilli Samanta Carbone Margherita Maria Rossi Federica Lotti Luisa Lonoce Maria Rosaria Curcio Salvatore Grosso |
| author_sort | Michele Minerva |
| collection | DOAJ |
| description | Background/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant. Our aim is to further delineate the phenotypic spectrum of ZNF711 gene pathogenic variants, adding clinical features to this rare condition, following a genotype-first approach. Case presentation: We describe the familiar case of two male siblings presenting with moderate intellectual disability (ID), language delay, and motor stereotypies. Additionally, they experienced generalized tonic–clonic seizures (GTCSs) and myoclonic seizures with interictal electroencephalographic abnormalities. Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance. Conclusions: This case expands the clinical range of ZNF711 variants by highlighting epilepsy as a potential comorbidity and suggesting other possible causal candidates for generalized epilepsy. Moreover, it emphasizes the need for further research into the phenotypic spectrum associated with this variant. |
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| institution | Kabale University |
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| language | English |
| publishDate | 2025-01-01 |
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| series | Neurology International |
| spelling | doaj-art-7df20287894948e384a4ad2919f0b60c2025-01-24T13:44:25ZengMDPI AGNeurology International2035-83772025-01-011711410.3390/neurolint17010014Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two SiblingsMichele Minerva0Lorenzo Perilli1Samanta Carbone2Margherita Maria Rossi3Federica Lotti4Luisa Lonoce5Maria Rosaria Curcio6Salvatore Grosso7Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, ItalyClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, ItalyClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, ItalyClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, ItalyClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, ItalyClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, ItalyClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, ItalyClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, ItalyBackground/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant. Our aim is to further delineate the phenotypic spectrum of ZNF711 gene pathogenic variants, adding clinical features to this rare condition, following a genotype-first approach. Case presentation: We describe the familiar case of two male siblings presenting with moderate intellectual disability (ID), language delay, and motor stereotypies. Additionally, they experienced generalized tonic–clonic seizures (GTCSs) and myoclonic seizures with interictal electroencephalographic abnormalities. Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance. Conclusions: This case expands the clinical range of ZNF711 variants by highlighting epilepsy as a potential comorbidity and suggesting other possible causal candidates for generalized epilepsy. Moreover, it emphasizes the need for further research into the phenotypic spectrum associated with this variant.https://www.mdpi.com/2035-8377/17/1/14epilepsyZNF711X-linked intellectual disability |
| spellingShingle | Michele Minerva Lorenzo Perilli Samanta Carbone Margherita Maria Rossi Federica Lotti Luisa Lonoce Maria Rosaria Curcio Salvatore Grosso Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings Neurology International epilepsy ZNF711 X-linked intellectual disability |
| title | Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings |
| title_full | Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings |
| title_fullStr | Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings |
| title_full_unstemmed | Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings |
| title_short | Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings |
| title_sort | electroencephalographic and epilepsy findings in znf711 variants a case series of two siblings |
| topic | epilepsy ZNF711 X-linked intellectual disability |
| url | https://www.mdpi.com/2035-8377/17/1/14 |
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