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Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review
Background: Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain development involved; and yet a certain degree of p...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852726/ https://www.ncbi.nlm.nih.gov/pubmed/36685914 http://dx.doi.org/10.3389/fgene.2022.990350 |
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author | Falcicchio, Giovanni Riva, Antonella La Neve, Angela Iacomino, Michele Lastella, Patrizia Suppressa, Patrizia Sciruicchio, Vittorio Trojano, Maria Striano, Pasquale |
author_facet | Falcicchio, Giovanni Riva, Antonella La Neve, Angela Iacomino, Michele Lastella, Patrizia Suppressa, Patrizia Sciruicchio, Vittorio Trojano, Maria Striano, Pasquale |
author_sort | Falcicchio, Giovanni |
collection | PubMed |
description | Background: Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain development involved; and yet a certain degree of phenotypic heterogeneity exists even when the same gene is affected. Here we report a man with an malformations of cortical development extending beyond occipital lobes associated with a novel stop-gain variant in LAMC3. Case presentation: The patient is a 28-year-old man suffering from drug-resistant epilepsy and moderate intellectual disability. He underwent a brain magnetic resonance imaging showing polymicrogyria involving occipital and temporal lobes bilaterally. After performing exome sequencing, a novel stop-gain variant in LAMC3 (c.3871C>T; p. Arg1291*) was identified. According to the cortical alteration of the temporal regions, temporal seizures were detected; instead, the patient did not report occipital seizures. Different pharmacological and non-pharmacological interventions (i.e., vagus nerve stimulation) were unsuccessful, even though a partial seizure reduction was obtained after cenobamate administration. Conclusion: Our case report confirms that variants of a gene known to be related to specific clinical and neuroradiological pictures can unexpectedly lead to new phenotypes involving different areas of the brain. |
format | Online Article Text |
id | pubmed-9852726 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-98527262023-01-21 Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review Falcicchio, Giovanni Riva, Antonella La Neve, Angela Iacomino, Michele Lastella, Patrizia Suppressa, Patrizia Sciruicchio, Vittorio Trojano, Maria Striano, Pasquale Front Genet Genetics Background: Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain development involved; and yet a certain degree of phenotypic heterogeneity exists even when the same gene is affected. Here we report a man with an malformations of cortical development extending beyond occipital lobes associated with a novel stop-gain variant in LAMC3. Case presentation: The patient is a 28-year-old man suffering from drug-resistant epilepsy and moderate intellectual disability. He underwent a brain magnetic resonance imaging showing polymicrogyria involving occipital and temporal lobes bilaterally. After performing exome sequencing, a novel stop-gain variant in LAMC3 (c.3871C>T; p. Arg1291*) was identified. According to the cortical alteration of the temporal regions, temporal seizures were detected; instead, the patient did not report occipital seizures. Different pharmacological and non-pharmacological interventions (i.e., vagus nerve stimulation) were unsuccessful, even though a partial seizure reduction was obtained after cenobamate administration. Conclusion: Our case report confirms that variants of a gene known to be related to specific clinical and neuroradiological pictures can unexpectedly lead to new phenotypes involving different areas of the brain. Frontiers Media S.A. 2023-01-06 /pmc/articles/PMC9852726/ /pubmed/36685914 http://dx.doi.org/10.3389/fgene.2022.990350 Text en Copyright © 2023 Falcicchio, Riva, La Neve, Iacomino, Lastella, Suppressa, Sciruicchio, Trojano and Striano. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Falcicchio, Giovanni Riva, Antonella La Neve, Angela Iacomino, Michele Lastella, Patrizia Suppressa, Patrizia Sciruicchio, Vittorio Trojano, Maria Striano, Pasquale Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review |
title | Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review |
title_full | Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review |
title_fullStr | Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review |
title_full_unstemmed | Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review |
title_short | Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review |
title_sort | case report: lamc3-associated cortical malformations: case report of a novel stop-gain variant and literature review |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852726/ https://www.ncbi.nlm.nih.gov/pubmed/36685914 http://dx.doi.org/10.3389/fgene.2022.990350 |
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