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First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation
Authors:Sei‐ichiro Motegi  Yoko Yokoyama  Akihiko Uchiyama  Sachiko Ogino  Yuko Takeuchi  Kazuya Yamada  Tomoyasu Hattori  Hiroaki Hashizume  Yuichi Ishikawa  Makoto Goto  Osamu Ishikawa
Institution:1. Department of Dermatology, Gunma University Graduate School of Medicine, , Maebashi, Japan;2. Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, , Maebashi, Japan;3. Department of Pathology, Institute of Cancer Research, Japanese Foundation for Cancer Research, , Tokyo, Japan;4. Division of Orthopedic Surgery and Rheumatology, East Medical Center, Tokyo Women's Medical University, , Tokyo, Japan;5. Division of Anti‐aging and Longevity Sciences, Department of Clinical Engineering, Faculty of Medical Engineering, Toin University of Yokohama, , Yokohama, Kanagawa, Japan
Abstract:Atypical progeroid syndrome (APS), including atypical Werner syndrome (AWS), is a progeroid syndrome involving heterozygous mutations in the LMNA gene encoding the nuclear protein lamin A/C. We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). A 53‐year‐old Japanese man had a history of recurrent severe cardiovascular diseases as well as brain infarction and hemorrhages. Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high‐pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird‐like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent. In immunofluorescence staining and electron microscopic analyses of the patient's cultured fibroblasts, abnormal nuclear morphology, an increase in small aggregation of heterochromatin and a decrease in interchromatin granules in nuclei of fibroblasts were observed, suggesting that abnormal nuclear morphology and chromatin disorganization may be associated with the pathogenesis of APS/AWS.
Keywords:atypical progeroid syndrome  atypical Werner syndrome  Hutchinson–  Gilford syndrome  lamin A  Werner syndrome
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