KMID : 0338420090240010068
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The Korean Journal of Internal Medicine 2009 Volume.24 No. 1 p.68 ~ p.72
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Novel LMNA Gene Mutation in a Patient With Atypical Werner¡¯s Syndrome
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Do Yun-Jeong
Kim Bo-Wan Kim Hee-Kyung Kim Jung-Guk Jung Eui-Dal Choi Seung-Hee Lee In-Kyu
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Abstract
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Hutchinson-Gilford progeria syndrome (HGPS) and Werner¡¯s syndrome are representative types of progeroid syndrome. LMNA (Lamin A/C) gene mutation with atypical Werner¡¯s syndrome have recently been reported. Atypical Werner¡¯s syndrome with the severe metabolic complications, the extent of the lipodystrophy is associated with A133L mutation in the LMNA gene and these patients present with phenotypically heterogeneous disorders. We experienced a 15-yr-old Korean female with progeroid features, generalized lipodystrophy, hypertriglyceridemia, fatty liver, steatohepatitis, and type 2 diabetes mellitus. Skin fibroblasts from the patient showed marked abnormal nuclear morphology, compared with that from normal persons. Gene analysis revealed that this patient had T506del of exon 2 in the LMNA gene. We report here the first case of atypical Werner¡¯s syndrome with frameshift mutation that was caused by T506del.
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KEYWORD
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Progeroid syndrome, Werner¡¯s syndrome, LMNA, T506del
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