| A case of atypical Werner syndrome without WRN gene mutations |
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Ji Hoon Choi, Eun A Lee, Yong Sung Kim, Jong Chul Won, Cheol Young Park, Chang Seok Ki |
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| WRN 유전자 돌연변이가 발견되지 않은 비전형적 베르너 증후군 1예 |
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최지훈, 이은아, 김용성, 원종철, 박철영, 기창석 |
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| Abstract |
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Werner syndrome is a rare autosomal recessive, hereditary disease that demonstrates progeroid features and has characteristic WRN gene mutations. Atypical Werner syndrome refers to a small subset of individuals who produce the normal WRN protein, but show some signs and symptoms that sufficiently overlap with Werner syndrome. Recently, we experienced a case of atypical Werner syndrome.
A 43-year-old woman was admitted to our hospital due to being severely underweight. She had an operative history of cataracts in both eyes and had suffered from multiple skin ulcers, deafness, and vision loss. Physical examination revealed short stature, low body weight, flat feet, and a scleroderma-like skin change. Laboratory and clinical tests showed that the patient had diabetes mellitus, osteoporosis, and premature atherosclerotic features. Her clinical presentation and laboratory findings were consistent with Werner syndrome. We performed a WRN, LMNA gene sequence analysis, but no mutations were detected. The patient was diagnosed with atypical Werner syndrome. |
| Key Words:
Werner syndrome; WRN gene |
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