Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report
The KCNQ2 gene, encoding for the K<sub>v</sub>7.2 subunits of the K<sub>v</sub>7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutati...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-04-01
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| Series: | Pediatric Reports |
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| Online Access: | https://www.mdpi.com/2036-7503/14/2/27 |
| _version_ | 1827657670532792320 |
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| author | Martina Siracusano Claudia Marcovecchio Assia Riccioni Caterina Dante Luigi Mazzone |
| author_facet | Martina Siracusano Claudia Marcovecchio Assia Riccioni Caterina Dante Luigi Mazzone |
| author_sort | Martina Siracusano |
| collection | DOAJ |
| description | The KCNQ2 gene, encoding for the K<sub>v</sub>7.2 subunits of the K<sub>v</sub>7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutations in KCNQ2 genes are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders including developmental delay and intellectual disability. However, little is known about the socio-communicative phenotype of children affected by the KCNQ2 mutation, and a detailed behavioral characterization focused on autistic symptoms has not yet been conducted. This case report describes the clinical behavioral phenotype of a 6-year-old boy carrying a de novo heterozygous KCNQ2 mutation, affected by early-onset seizures and autism spectrum disorder (ASD). We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative and autistic symptoms through the administration of standardized tools. The main contribution of this case report is to provide a detailed developmental and behavioral characterization focused on ASD symptoms in a child with [c.812 G > A; p. (Gly271Asp)]mutation in the KCNQ2 gene. |
| first_indexed | 2024-03-09T22:47:16Z |
| format | Article |
| id | doaj.art-48ac9f3fe8d5466a9e29ea9cec5df33a |
| institution | Directory Open Access Journal |
| issn | 2036-7503 |
| language | English |
| last_indexed | 2024-03-09T22:47:16Z |
| publishDate | 2022-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pediatric Reports |
| spelling | doaj.art-48ac9f3fe8d5466a9e29ea9cec5df33a2023-11-23T18:25:59ZengMDPI AGPediatric Reports2036-75032022-04-0114220020610.3390/pediatric14020027Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case ReportMartina Siracusano0Claudia Marcovecchio1Assia Riccioni2Caterina Dante3Luigi Mazzone4Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, ItalyChild Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, 00133 Rome, ItalyChild Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, 00133 Rome, ItalyChild Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, 00133 Rome, ItalyChild Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, 00133 Rome, ItalyThe KCNQ2 gene, encoding for the K<sub>v</sub>7.2 subunits of the K<sub>v</sub>7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutations in KCNQ2 genes are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders including developmental delay and intellectual disability. However, little is known about the socio-communicative phenotype of children affected by the KCNQ2 mutation, and a detailed behavioral characterization focused on autistic symptoms has not yet been conducted. This case report describes the clinical behavioral phenotype of a 6-year-old boy carrying a de novo heterozygous KCNQ2 mutation, affected by early-onset seizures and autism spectrum disorder (ASD). We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative and autistic symptoms through the administration of standardized tools. The main contribution of this case report is to provide a detailed developmental and behavioral characterization focused on ASD symptoms in a child with [c.812 G > A; p. (Gly271Asp)]mutation in the KCNQ2 gene.https://www.mdpi.com/2036-7503/14/2/27autismneuropsychological phenotypedevelopmentsocial behaviorKCNQ2epilepsy |
| spellingShingle | Martina Siracusano Claudia Marcovecchio Assia Riccioni Caterina Dante Luigi Mazzone Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report Pediatric Reports autism neuropsychological phenotype development social behavior KCNQ2 epilepsy |
| title | Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report |
| title_full | Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report |
| title_fullStr | Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report |
| title_full_unstemmed | Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report |
| title_short | Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report |
| title_sort | autism spectrum disorder and a de novo kcnq2 gene mutation a case report |
| topic | autism neuropsychological phenotype development social behavior KCNQ2 epilepsy |
| url | https://www.mdpi.com/2036-7503/14/2/27 |
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