A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features

Molecular Syndromology

J. Oshima¹  C. Kubisch¹  D.F. Leistritz¹  K. Friedrich¹  F.M. Hisama¹  D. Lessel¹  G.M. Martin¹  B. Saha¹ 

[1] aDepartment of Pathology, University of Washington, Seattle, Wash., USA

关键词: Human;    Lamin;    Progeroid syndrome;    Werner syndrome;   

DOI  :  10.1159/000320166

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Dunnigan-type partial lipodystrophy (familial partial lipodystrophy, Dunnigan variety, FPLD2) can be caused by LMNA mutations. We identified a novel heterozygous LMNA mutation, P485R, in a patient referred to the International Registry of Werner Syndrome because of features consistent with that of progeroid disorder but who was wild type at the WRN locus. The novel mutation is located 2 amino acids away from the canonical FPLD mutations in exon 8 of the LMNA gene. Immunocytochemical analysis revealed abnormal nuclear morphology characteristic of laminopathies within primary fibroblast cultures, but not in a lymphoblastoid cell line, in keeping with previous observations. Our findings indicate that FPLD2 should be considered in the differential diagnosis of the Werner syndrome.

【 授权许可】

Unknown