A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family
| Autor: | Yun Yuan, Xue-mei Liu, Jing Miao, Xiao-jing Wei, Fei-fei Su, Xue-fan Yu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male Heterozygote Deletion Filamin C gene Dominant Myofibrillar myopathy Case report Filamins Case Report 030105 genetics & heredity Filamin medicine.disease_cause lcsh:RC346-429 03 medical and health sciences Exon 0302 clinical medicine Asian People medicine Humans FLNC Actin lcsh:Neurology. Diseases of the nervous system Sequence Deletion Mutation business.industry Muscle weakness Heterozygote advantage General Medicine Exons Molecular biology Pedigree Phenotype Female Neurology (clinical) medicine.symptom Myofibril business 030217 neurology & neurosurgery Myopathies Structural Congenital |
| Zdroj: | BMC Neurology BMC Neurology, Vol 18, Iss 1, Pp 1-5 (2018) |
| ISSN: | 1471-2377 |
| Popis: | Background Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in the chromosome 7q32-q35 region. Genetic variations in the FLNC gene result in various clinical phenotypes. Case presentation We describe a 43-year-old woman who suffered filamin C-related MFM, with symptoms first presenting in the proximal muscles of the lower limbs and eventually spreading to the upper limbs and distal muscles. The patient’s serum level of creatine kinase was mildly increased. Mildy myopathic changes in the electromyographic exam and moderate lipomatous alterations in lower limb MRI were found. Histopathological examination revealed increased muscle fiber size variability, disturbances in oxidative enzyme activity, and the presence of abnormal protein aggregates and vacuoles in some muscle fibers. Ultrastructural analysis showed inclusions composed of thin filaments and interspersed granular densities. DNA sequencing analysis detected a novel 15-nucleotide deletion (c.2791_2805del, p.931_935del) in the FLNC gene. The patient’s father, sister, brother, three paternal aunts, one paternal uncle, and the uncle’s son also had slowly progressive muscle weakness, and thus, we detected an autosomal dominant inheritance pattern of the disorder. Conclusions A novel heterogeneous 15-nucleotide deletion (c.2791_2805del, p.931_935del) in the Ig-like domain 7 of the FLNC gene was found to cause filamin C-related MFM. This deletion in the FLNC gene causes protein aggregation, abnormalities in muscle structure, and impairment in muscle fiber function, which leads to muscle weakness. |
| Databáze: | OpenAIRE |
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