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Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

Peripheral facial palsy rarely occurs as part of Melkersson–Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; ho...

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Autores principales: Azzarà, Alessia, Cassano, Ilaria, Lintas, Carla, Pilato, Fabio, Capone, Fioravante, Di Lazzaro, Vincenzo, Gurrieri, Fiorella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378782/
https://www.ncbi.nlm.nih.gov/pubmed/37510386
http://dx.doi.org/10.3390/genes14071482
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author Azzarà, Alessia
Cassano, Ilaria
Lintas, Carla
Pilato, Fabio
Capone, Fioravante
Di Lazzaro, Vincenzo
Gurrieri, Fiorella
author_facet Azzarà, Alessia
Cassano, Ilaria
Lintas, Carla
Pilato, Fabio
Capone, Fioravante
Di Lazzaro, Vincenzo
Gurrieri, Fiorella
author_sort Azzarà, Alessia
collection PubMed
description Peripheral facial palsy rarely occurs as part of Melkersson–Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; however, the causative gene remains to be identified. Migraine is a common neurological disorder, presenting with or without aura, which may be associated with neurological symptoms. The classical example of monogenic migraine is familial hemiplegic migraine (FHM), which has phenotypic variability in carriers of variants in the same gene or even carriers of the same variant. We present a family in which two sisters displayed recurrent migraines, one of which presented recurrent facial palsy and had clinical diagnosis of MRS. We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C>G missense heterozygous variant in SCN1A carried only by the affected sister. Variants in the SCN1A gene can cause a spectrum of early-onset epileptic encephalopathies, in addition to FHM; therefore, our finding reasonably explains the proband phenotype, in which the main symptom was recurrent facial palsy. This report also adds knowledge to the clinical spectrum of SCN1A alterations and suggests a potential overlap between MRS and FHM.
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spelling pubmed-103787822023-07-29 Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? Azzarà, Alessia Cassano, Ilaria Lintas, Carla Pilato, Fabio Capone, Fioravante Di Lazzaro, Vincenzo Gurrieri, Fiorella Genes (Basel) Article Peripheral facial palsy rarely occurs as part of Melkersson–Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; however, the causative gene remains to be identified. Migraine is a common neurological disorder, presenting with or without aura, which may be associated with neurological symptoms. The classical example of monogenic migraine is familial hemiplegic migraine (FHM), which has phenotypic variability in carriers of variants in the same gene or even carriers of the same variant. We present a family in which two sisters displayed recurrent migraines, one of which presented recurrent facial palsy and had clinical diagnosis of MRS. We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C>G missense heterozygous variant in SCN1A carried only by the affected sister. Variants in the SCN1A gene can cause a spectrum of early-onset epileptic encephalopathies, in addition to FHM; therefore, our finding reasonably explains the proband phenotype, in which the main symptom was recurrent facial palsy. This report also adds knowledge to the clinical spectrum of SCN1A alterations and suggests a potential overlap between MRS and FHM. MDPI 2023-07-20 /pmc/articles/PMC10378782/ /pubmed/37510386 http://dx.doi.org/10.3390/genes14071482 Text en © 2023 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 Article
Azzarà, Alessia
Cassano, Ilaria
Lintas, Carla
Pilato, Fabio
Capone, Fioravante
Di Lazzaro, Vincenzo
Gurrieri, Fiorella
Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
title Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
title_full Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
title_fullStr Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
title_full_unstemmed Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
title_short Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
title_sort melkersson–rosenthal syndrome and migraine: a new phenotype associated with scn1a variants?
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378782/
https://www.ncbi.nlm.nih.gov/pubmed/37510386
http://dx.doi.org/10.3390/genes14071482
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