Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> 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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MDPI AG
2023-07-01
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| author | Alessia Azzarà Ilaria Cassano Carla Lintas Fabio Pilato Fioravante Capone Vincenzo Di Lazzaro Fiorella Gurrieri |
| author_facet | Alessia Azzarà Ilaria Cassano Carla Lintas Fabio Pilato Fioravante Capone Vincenzo Di Lazzaro Fiorella Gurrieri |
| author_sort | Alessia Azzarà |
| collection | DOAJ |
| 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 <i>SCN1A</i> carried only by the affected sister. Variants in the <i>SCN1A</i> 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 <i>SCN1A</i> alterations and suggests a potential overlap between MRS and FHM. |
| first_indexed | 2024-03-11T01:02:15Z |
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| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T01:02:15Z |
| publishDate | 2023-07-01 |
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| spelling | doaj.art-03b99a54e15b4f69b58107df230d43122023-11-18T19:31:09ZengMDPI AGGenes2073-44252023-07-01147148210.3390/genes14071482Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants?Alessia Azzarà0Ilaria Cassano1Carla Lintas2Fabio Pilato3Fioravante Capone4Vincenzo Di Lazzaro5Fiorella Gurrieri6Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, ItalyResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, ItalyResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, ItalyResearch Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, ItalyResearch Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, ItalyResearch Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, ItalyResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, ItalyPeripheral 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 <i>SCN1A</i> carried only by the affected sister. Variants in the <i>SCN1A</i> 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 <i>SCN1A</i> alterations and suggests a potential overlap between MRS and FHM.https://www.mdpi.com/2073-4425/14/7/1482Melkersson–Rosenthal syndromemigraineexomecandidate gene<i>SCN1A</i>precision medicine |
| spellingShingle | Alessia Azzarà Ilaria Cassano Carla Lintas Fabio Pilato Fioravante Capone Vincenzo Di Lazzaro Fiorella Gurrieri Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants? Genes Melkersson–Rosenthal syndrome migraine exome candidate gene <i>SCN1A</i> precision medicine |
| title | Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants? |
| title_full | Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants? |
| title_fullStr | Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants? |
| title_full_unstemmed | Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants? |
| title_short | Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants? |
| title_sort | melkersson rosenthal syndrome and migraine a new phenotype associated with i scn1a i variants |
| topic | Melkersson–Rosenthal syndrome migraine exome candidate gene <i>SCN1A</i> precision medicine |
| url | https://www.mdpi.com/2073-4425/14/7/1482 |
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