title: Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Yun Jeong
authors.initials: YJ
authors.lastname: Doh
authors.forename: Hee Kyoung
authors.initials: HK
authors.lastname: Kim
authors.forename: Eui Dal
authors.initials: ED
authors.lastname: Jung
authors.forename: Seung Hee
authors.initials: SH
authors.lastname: Choi
authors.forename: Jung Guk
authors.initials: JG
authors.lastname: Kim
authors.forename: Bo Wan
authors.initials: BW
authors.lastname: Kim
authors.forename: In Kyu
authors.initials: IK
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D004247:DNA / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008060:Lipodystrophy; D009154:Mutation; D017422:Sequence Analysis, DNA; D012867:Skin / Q000378:metabolism / Q000473:pathology; D014898:Werner Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D004247:DNA