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
Abstract 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 r...
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doaj-aa6f8e4e8d75445eb91723aa68970d162020-11-24T22:01:13ZengBMCBMC Neurology1471-23772018-06-011811510.1186/s12883-018-1078-4A 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 familyJing Miao0Fei-fei Su1Xue-mei Liu2Xiao-jing Wei3Yun Yuan4Xue-fan Yu5Department of Neurology and Neuroscience Center, First Affiliated Hospital of Jilin UniversityDepartment of Neurology and Neuroscience Center, First Affiliated Hospital of Jilin UniversityDepartment of Neurology and Neuroscience Center, First Affiliated Hospital of Jilin UniversityDepartment of Neurology and Neuroscience Center, First Affiliated Hospital of Jilin UniversityDepartment of Neurology, Peking University First HospitalDepartment of Neurology and Neuroscience Center First Affiliated Hospital of Jilin UniversityAbstract 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.http://link.springer.com/article/10.1186/s12883-018-1078-4Deletion, Filamin C gene, Dominant, Myofibrillar myopathy, Case report |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jing Miao Fei-fei Su Xue-mei Liu Xiao-jing Wei Yun Yuan Xue-fan Yu |
spellingShingle |
Jing Miao Fei-fei Su Xue-mei Liu Xiao-jing Wei Yun Yuan Xue-fan Yu 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 BMC Neurology Deletion, Filamin C gene, Dominant, Myofibrillar myopathy, Case report |
author_facet |
Jing Miao Fei-fei Su Xue-mei Liu Xiao-jing Wei Yun Yuan Xue-fan Yu |
author_sort |
Jing Miao |
title |
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 |
title_short |
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 |
title_full |
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 |
title_fullStr |
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 |
title_full_unstemmed |
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 |
title_sort |
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 |
publisher |
BMC |
series |
BMC Neurology |
issn |
1471-2377 |
publishDate |
2018-06-01 |
description |
Abstract 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. |
topic |
Deletion, Filamin C gene, Dominant, Myofibrillar myopathy, Case report |
url |
http://link.springer.com/article/10.1186/s12883-018-1078-4 |
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