Department of Clinical Neurosciences, Faculty of Medicine, University of Calgary, Canada.
Neuromuscul Disord. 2013 Mar;23(3):265-8. doi: 10.1016/j.nmd.2012.11.011. Epub 2013 Jan 11.
Autosomal recessive Emery Dreifuss muscular dystrophy (AR-EDMD) is rare, with few reports in the medical literature. We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) in the Hutterite population resulting from homozygous or heterozygous R482Q mutations in the lamin A/C gene (LMNA). Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension. The overall carrier frequency of the R482Q mutation in Dariusleut and Leherleut Hutterites in Alberta was found to be 1.45%. Homozygosity for this mutation has not been previously reported and here resulted in a combination of generalized lipodystrophy and EDMD. Knowledge that the LMNA R482Q mutation is present in this population is important for genetic counseling, surveillance, and management of the associated disorders.
常染色体隐性 Emery-Dreifuss 肌营养不良症（AR-EDMD）较为罕见，医学文献中鲜有报道。我们描述了首例 Hutterite 人群中常染色体隐性遗传家族性部分脂肪营养不良（FPLD）和常染色体显性遗传性家族性部分脂肪营养不良（AR-EDMD）病例，这些病例是由 lamin A/C 基因（LMNA）中的 R482Q 突变纯合子或杂合子引起的。LMNA R482Q 突变的杂合子导致 FPLD，其与血脂异常和高血压的风险增加相关。在艾伯塔省的 Dariusleut 和 Leherleut Hutterites 中，发现 LMNA R482Q 突变的总体携带率为 1.45%。该突变的纯合子以前尚未报道过，此处导致了全身性脂肪营养不良和 EDMD 的合并症。了解该人群中存在 LMNA R482Q 突变对于遗传咨询、监测和相关疾病的管理非常重要。
