Saha B, Lessel D, Hisama F M, Leistritz D F, Friedrich K, Martin G M, Kubisch C, Oshima J
Department of Pathology, University of Washington, Seattle, Wash., USA.
Mol Syndromol. 2010 Sep;1(3):127-132. doi: 10.1159/000320166. Epub 2010 Sep 14.
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.
邓尼根型部分脂肪营养不良（家族性部分脂肪营养不良，邓尼根型，FPLD2）可由LMNA基因突变引起。我们在一名因具有早衰样疾病特征而被转诊至国际沃纳综合征登记处的患者中鉴定出一种新的杂合LMNA突变P485R，但其WRN基因座为野生型。该新突变位于LMNA基因第8外显子中典型FPLD突变的2个氨基酸处。免疫细胞化学分析显示，原代成纤维细胞培养物中存在层粘连蛋白病特征性的异常核形态，但在淋巴母细胞系中未观察到，这与先前的观察结果一致。我们的研究结果表明，在沃纳综合征的鉴别诊断中应考虑FPLD2。
