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Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea
- Source :
- Journal of the Neurological Sciences. 383:61-68
- Publication Year :
- 2017
- Publisher :
- Elsevier BV, 2017.
-
Abstract
- Nemaline myopathy (NM), the most common of the congenital myopathies, is caused by various genetic mutations. In this study, we attempted to identify the causative mutations of NM and to reveal any specific genotype-phenotype relationship in Korean patients with this disease. We investigated the clinical features and genotypes in 15 pathologically diagnosed NM patients, using whole exome sequencing (WES) combined with targeted sequencing and array-based comparative genomic hybridization. This strategy revealed pathogenic causative mutations in seven patients (46.7%), among whom mutations in the nebulin gene (NEB) were the most frequent (5 patients, 33.3%). Copy number variation (CNV) abnormality in NEB was not observed in any of our patients. In those with NEB-associated NM, the clinical spectrum was highly variable regardless of the mutation type. However, the majority of patients showing anterior lower leg weakness were associated with mutations located between NEB exons 166 and 177. We concluded that the combination of WES and targeted Sanger sequencing is an effective strategy for analyzing genotypes in patients with NM, and that CNV in NEB may not be a frequent cause of this disease among Koreans.
- Subjects :
- Adult
Male
0301 basic medicine
Pathology
medicine.medical_specialty
Adolescent
DNA Copy Number Variations
Genotyping Techniques
Muscle Proteins
Myopathies, Nemaline
medicine.disease_cause
Young Adult
03 medical and health sciences
Nebulin
symbols.namesake
0302 clinical medicine
Nemaline myopathy
Republic of Korea
Exome Sequencing
Genotype
medicine
Humans
Copy-number variation
Child
Exome sequencing
Sanger sequencing
Genetics
Mutation
Muscle Weakness
biology
Infant
medicine.disease
030104 developmental biology
Lower Extremity
Neurology
Child, Preschool
biology.protein
symbols
Female
Neurology (clinical)
030217 neurology & neurosurgery
Comparative genomic hybridization
Subjects
Details
- ISSN :
- 0022510X
- Volume :
- 383
- Database :
- OpenAIRE
- Journal :
- Journal of the Neurological Sciences
- Accession number :
- edsair.doi.dedup.....3cb5021d0fa0c9c3394b06c1d0370332