A novel mutation of SI2F in desmin causing desminopathy: a family report
10.3760/cma.j.issn.1006-7876.2009.10.009
- VernacularTitle:结蛋白基因S12F新突变导致的结蛋白病一家系
- Author:
Daojun HONG
;
Xinghua LUAN
;
Wei ZHANG
;
Bin CHEN
;
Lei FENG
;
Zhaoxia WANG
;
Yun YUAN
- Publication Type:Journal Article
- Keywords:
Muscular diseases;
Heart disease;
Desmin;
Mutation
- From:
Chinese Journal of Neurology
2009;42(10):682-685
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report clinical and pathological features in a Chinese family with desminopathy caused by a novel mutation in desmin gene. Methods There were 8 patients (7 male and 1 female) in a family manifesting desminopathy in an autosomal dominant inheritance pattern. The onset age ranged from 20--50 years old. Heart disease appeared in 7 cases, diarrhea in 1 case and limb weakness in 3 patients. Muscle biopsies were carried out in proband and his elder brother. The histological, enzymhistochemicai staining, ultrastructural examination and immunohistochemical staining with desmin antibody were performed. The sequence of desmin gene was analyzed in DNA from 4 patients, 5 asymptomatic members and 50 healthy controls. Results Muscle pathology in the proband revealed wide variation in size of fibers. Some fibers had eosinophilic changes with rimmed vacuoles. Muscle pathology in the brother revealed multiple small and round eosinophilic inclusions in the fibers. Desmin staining was positive in the inclusions and in the sarcolemma. Electron microscopy revealed deposits of abnormal granulofilamentous materials. A novel S12F mutation in desmin gene has been identified in 4 affected family individuals, but not in unaffected family members and controls. Conclusions The desminopathy caused by desmiu SI2F mutation dominantly affected male individuals. Most of victims had cardiac abnormalities. The myopatholgical features can vary in the different patients in one family.
