Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome.
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.
Doh
Yun Jeong
YJ
Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
Kim
Hee Kyoung
HK
Jung
Eui Dal
ED
Choi
Seung Hee
SH
Kim
Jung Guk
JG
Kim
Bo Wan
BW
Lee
In Kyu
IK
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
C494847:LMNA protein, human; D034904:Lamin Type A; D004247:DNA