scholarly journals GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Gulden Diniz ◽  
Yaprak Secil ◽  
Serdar Ceylaner ◽  
Figen Tokucoglu ◽  
Sabiha Türe ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Dna Analysis ◽  
Novel Mutation ◽  
Definitive Diagnosis ◽  
Literature Survey ◽  
Homozygous Mutation ◽  
Rimmed Vacuoles ◽  
Gne Myopathy ◽  
Hereditary Inclusion Body Myopathy ◽  
Gne Gene

Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age.Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait. Her younger sister was 36 years old and had similar symptoms. The first symptoms of the disorder were seen when the sisters were 30 and 34 years old, respectively. The muscle biopsy showed primary myopathic features and presence of rimmed vacuoles. DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.2152 G>A (p.A718T)] in the GNE genes.Conclusion. Based on our literature survey, we believe that ours is the first confirmed case of primary GNE myopathy with a novel missense mutation in Turkey. These patients illustrate that the muscle biopsy is still an important method for the differential diagnosis of vacuolar myopathies in that the detection of inclusions is required for the definitive diagnosis.

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

2013 ◽  
Vol 85 (8) ◽  
pp. 914-917 ◽  
Author(s):  
A. Cho ◽  
Y. K. Hayashi ◽  
K. Monma ◽  
Y. Oya ◽  
S. Noguchi ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Distal Myopathy ◽  
Rimmed Vacuoles ◽  
Gne Myopathy ◽  
Mutation Profile ◽  
Gne Gene

Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene

2016 ◽  
Vol 26 ◽  
pp. S170
Author(s):  
G. Diniz ◽  
Y. Secil ◽  
S. Ceylaner ◽  
F. Tokucoglu ◽  
S. Ture ◽  
...  
Keyword(s):  
Inclusion Body ◽  
Novel Mutation ◽  
Inclusion Body Myopathy ◽  
Hereditary Inclusion Body Myopathy ◽  
Gne Gene

scholarly journals Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient

2017 ◽  
Vol 75 (1) ◽  
pp. 72-73
Author(s):  
Eduardo de Paula Estephan ◽  
Cristiane Araújo Martins Moreno ◽  
André Macedo Serafim da Silva ◽  
Rodrigo de Holanda Mendonça ◽  
Osório Abath Neto ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Rimmed Vacuoles ◽  
Gne Myopathy ◽  
Brazilian Patient

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

Focal Segmental Glomerulosclerosis Associated with Mitochondrial Cytopathy: Report of Two Cases with Special Emphasis on Podocytes

2005 ◽  
Vol 8 (6) ◽  
pp. 710-717 ◽  
Author(s):  
Şafak Güçer ◽  
Beril Talim ◽  
Esin Aşan ◽  
Petek Korkusuz ◽  
Seza Özen ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Muscle Biopsy ◽  
Dna Analysis ◽  
Cell Damage ◽  
Serum Lactate ◽  
High Serum ◽  
Glomerular Epithelial Cell ◽  
Mitochondrial Cytopathy ◽  
Segmental Glomerulosclerosis ◽  
Renal Complication

We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain enzymes were found to be normal, while mitochondrial DNA analysis revealed the population of a single deleted mtDNA in the heteroplasmic state. The present cases illustrate FSGS as a rare renal complication of mitochondrial disease and provide further evidence of podocytes possessing abnormal mitochondria which may cause glomerular epithelial cell damage leading to glomerulosclerosis.

Sign in / Sign up

Export Citation Format

Share Document