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Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing
Rumiko Izumi1, Tetsuya Niihori1, Toshiaki Takahashi1
1Departments of Neurology (R.I., N.S., M.T., M.K., H.W., M.A.) and Medical Genetics (R.I., T.N., Y.A.), Tohoku University Graduate School of Medicine, Sendai, Japan; Department of Neurology (T.T.), National Hospital Organization Sendai-Nishitaga, National Hospital, Sendai, Japan; Department of Neurology (M.T.), Iwate National Hospital, Ichinoseki, Japan; Department of Neurology (C.W.), Hiroshima-Nishi Medical Center, Hiroshima, Japan; Department of Neurology (K.S.), Nara Medical University, Nara, Japan; and Department of Neurology (H.N.) and Research Division for Neurodegeneration and Dementia (G.S.), Nagoya University Graduate School of Medicine, Nagoya, Japan.
Genetic analysis of suspected dysferlinopathy revealed mutations in 59% of patients. Comprehensive gene analysis is crucial for diagnosing dysferlin deficiency, a common limb-girdle muscular dystrophy subtype.
Area of Science:
- Genetics
- Neuromuscular Disorders
- Molecular Biology
Background:
- Dysferlinopathy is a group of inherited muscle disorders.
- Accurate genetic diagnosis is essential for understanding disease mechanisms and patient management.
Purpose of the Study:
- To identify the genetic causes of suspected dysferlinopathy.
- To establish the genetic profile of myopathies characterized by dysferlin deficiency.
Main Methods:
- Next-generation sequencing of 42 myopathy-associated genes in 64 patients.
- Confirmation of mutations via Sanger sequencing and multiplex ligation-dependent probe amplification for DYSF copy-number variations.
- Analysis of genetic profiles in 90 patients with immunohistochemically confirmed dysferlin deficiency.
Main Results:
- Pathogenic mutations were found in 59% of investigated patients.
- DYSF mutations were identified in 23 patients, including 6 novel mutations.
- In patients with dysferlin deficiency, DYSF mutations accounted for 70%, CAPN3 for 10%, CAV3 for 2%, and other genes for 3%; 16% remained genetically unresolved.
Conclusions:
- The genetic landscape of dysferlin deficiency is heterogeneous.
- Comprehensive genetic analysis of related genes significantly improves the diagnosis of dysferlinopathy, a common limb-girdle muscular dystrophy subtype.
- Whole-genome or whole-exome sequencing is recommended for unresolved cases.
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