Back to Search
Start Over
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation
- Source :
- PLoS ONE, Vol 15, Iss 5, p e0233017 (2020), PLoS ONE
- Publication Year :
- 2020
- Publisher :
- Public Library of Science (PLoS), 2020.
-
Abstract
- Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4. The patients with concomitant mutations in both genes manifested different unique symptoms from mutations in these genes separately. Here, we describe a patient with myotonia and periodic paralysis in a consanguineous marriage pedigree. By using whole-exome sequencing, a novel F306S variant in the CLCN1 gene and a known R222W mutation in the SCN4A gene were identified in the pedigree. Patch clamp analysis revealed that the F306S mutant reduced the opening probability of CLC-1 and chloride conductance. Our study expanded the CLCN1 mutation database. We emphasized the value of whole-exome sequencing for differential diagnosis in atypical myotonic patients.
- Subjects :
- Male
Models, Molecular
0301 basic medicine
Gene Identification and Analysis
Pathology and Laboratory Medicine
Database and Informatics Methods
Consanguinity
0302 clinical medicine
Medicine and Health Sciences
NAV1.4 Voltage-Gated Sodium Channel
Musculoskeletal System
Conserved Sequence
Exome sequencing
Genetics
Multidisciplinary
Muscles
Periodic paralysis
Middle Aged
Recombinant Proteins
Pedigree
Chemistry
Bioassays and Physiological Analysis
Physical Sciences
Mutation (genetic algorithm)
Medicine
Female
Anatomy
Muscle Electrophysiology
Consanguineous Marriage
Research Article
Adult
China
Adolescent
Myotonia Congenita
Science
Hypokalemic Periodic Paralysis
Biology
Research and Analysis Methods
Diagnosis, Differential
Young Adult
03 medical and health sciences
Signs and Symptoms
Chlorides
Hypokalemic periodic paralysis
Diagnostic Medicine
Chloride Channels
Exome Sequencing
medicine
Paralysis
Humans
Amino Acid Sequence
Mutation Detection
Aged
CLCN1
Myotonia congenita
Electrophysiological Techniques
Chemical Compounds
Biology and Life Sciences
Myotonia
medicine.disease
Biological Databases
HEK293 Cells
030104 developmental biology
Skeletal Muscles
Body Limbs
Mutation Databases
Mutation
biology.protein
Mutant Proteins
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 19326203
- Volume :
- 15
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- PLoS ONE
- Accession number :
- edsair.doi.dedup.....388abe75f92af2ac89e7233676ba29b3