Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome.
10.3904/kjim.2009.24.1.68
- Author:
Yun Jeong DOH
1
;
Hee Kyoung KIM
;
Eui Dal JUNG
;
Seung Hee CHOI
;
Jung Guk KIM
;
Bo Wan KIM
;
In Kyu LEE
Author Information
1. Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea. leei@knu.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Progeroid syndrome;
Werner's syndrome;
LMNA, T506del
- MeSH:
Adolescent;
DNA/*genetics;
Exons;
Female;
Genetic Predisposition to Disease;
Humans;
Lamin Type A/*genetics/metabolism;
Lipodystrophy;
*Mutation;
Sequence Analysis, DNA;
Skin/metabolism/pathology;
Werner Syndrome/diagnosis/*genetics/metabolism
- From:The Korean Journal of Internal Medicine
2009;24(1):68-72
- CountryRepublic of Korea
- Language:English
-
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.
