Cannon Ashley, Baker Matthew, Boeve Brad, Josephs Keith, Knopman David, Petersen Ron, Parisi Joseph, Dickison Dennis, Adamson Jennifer, Snowden Julie, Neary David, Mann David, Hutton Mike, Pickering-Brown Stuart M
Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Neurosci Lett. 2006 May 1;398(1-2):83-4. doi: 10.1016/j.neulet.2005.12.056. Epub 2006 Jan 23.
It was reported in 1995 that a large Danish family with familial frontotemporal dementia (FTD) was linked to the pericentromeric region of chromosome 3. It has since been claimed that a mutation in the splice acceptor site of exon 6 of CHMP2B is the pathogenic variant in this family. In order to determine whether CHMP2B mutations are a common cause of disease in patients with frontotemporal lobar degeneration (FTLD) we sequenced all exons and flanking regions of CHMP2B in 141 familial FTLD probands from the USA and UK. We failed to find a single pathogenic variant in any case. Polymorphisms were detected but were present in control samples. We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree.
1995年有报道称，一个患有家族性额颞叶痴呆（FTD）的丹麦大家庭与3号染色体的着丝粒周围区域有关联。此后有人声称，CHMP2B基因第6外显子剪接受体位点的突变是这个家族中的致病变体。为了确定CHMP2B突变是否是额颞叶变性（FTLD）患者疾病的常见病因，我们对来自美国和英国的141例家族性FTLD先证者的CHMP2B所有外显子及侧翼区域进行了测序。我们在任何病例中都未发现一个致病变体。检测到了多态性，但在对照样本中也存在。我们得出结论，CHMP2B突变是家族性FTLD的罕见病因，可能是丹麦家系所特有的。
