Cargando…

Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report

The KCNQ2 gene, encoding for the K(v)7.2 subunits of the K(v)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 ear...

Descripción completa

Detalles Bibliográficos
Autores principales: Siracusano, Martina, Marcovecchio, Claudia, Riccioni, Assia, Dante, Caterina, Mazzone, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149837/
https://www.ncbi.nlm.nih.gov/pubmed/35645364
http://dx.doi.org/10.3390/pediatric14020027
_version_ 1784717289099100160
author Siracusano, Martina
Marcovecchio, Claudia
Riccioni, Assia
Dante, Caterina
Mazzone, Luigi
author_facet Siracusano, Martina
Marcovecchio, Claudia
Riccioni, Assia
Dante, Caterina
Mazzone, Luigi
author_sort Siracusano, Martina
collection PubMed
description The KCNQ2 gene, encoding for the K(v)7.2 subunits of the K(v)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.
format Online
Article
Text
id pubmed-9149837
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-91498372022-05-31 Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report Siracusano, Martina Marcovecchio, Claudia Riccioni, Assia Dante, Caterina Mazzone, Luigi Pediatr Rep Case Report The KCNQ2 gene, encoding for the K(v)7.2 subunits of the K(v)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. MDPI 2022-04-24 /pmc/articles/PMC9149837/ /pubmed/35645364 http://dx.doi.org/10.3390/pediatric14020027 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Siracusano, Martina
Marcovecchio, Claudia
Riccioni, Assia
Dante, Caterina
Mazzone, Luigi
Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report
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 Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149837/
https://www.ncbi.nlm.nih.gov/pubmed/35645364
http://dx.doi.org/10.3390/pediatric14020027
work_keys_str_mv AT siracusanomartina autismspectrumdisorderandadenovokcnq2genemutationacasereport
AT marcovecchioclaudia autismspectrumdisorderandadenovokcnq2genemutationacasereport
AT riccioniassia autismspectrumdisorderandadenovokcnq2genemutationacasereport
AT dantecaterina autismspectrumdisorderandadenovokcnq2genemutationacasereport
AT mazzoneluigi autismspectrumdisorderandadenovokcnq2genemutationacasereport