Novel LMNA gene mutation in a patient with atypical Werner's syndrome

Yun Jeong Doh, Hee Kyoung Kim, Eui Dal Jung, Seung Hee Choi, Jung Guk Kim, Bo Wan Kim, In Kyu Lee

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26 Scopus citations

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.

Original languageEnglish
Pages (from-to)68-72
Number of pages5
JournalKorean Journal of Internal Medicine
Volume24
Issue number1
DOIs
StatePublished - 2009

Keywords

  • LMNA
  • Progeroid syndrome
  • T506del
  • Werner's syndrome

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