Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with
Melkersson–Rosenthal syndrome
SCN1A
candidate gene
exome
migraine
precision medicine
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
20 07 2023
20 07 2023
Historique:
received:
28
06
2023
revised:
14
07
2023
accepted:
18
07
2023
medline:
31
7
2023
pubmed:
29
7
2023
entrez:
29
7
2023
Statut:
epublish
Résumé
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
Identifiants
pubmed: 37510386
pii: genes14071482
doi: 10.3390/genes14071482
pmc: PMC10378782
pii:
doi:
Substances chimiques
SCN1A protein, human
0
NAV1.1 Voltage-Gated Sodium Channel
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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