Department of Medical Genetics, University of Tübingen, Tübingen, Germany.
Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0.
We recently identified a new locus for spastic paraplegia type 47 (SPG47) in a consanguineous Arabic family with two affected siblings with progressive spastic paraparesis,intellectual disability, seizures, periventricular white matter changes and thin corpus callosum. Using exome sequencing, we now identified a novel AP4B1 frameshift mutation (c.664delC) in this family. This mutation was homozygous in both affected siblings and heterozygous in both parents. The mutant allele was absent in 316 Caucasian and 200 ethnically matched control chromosomes. We propose that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability.
我们最近在一个有两个受影响兄弟姐妹的阿拉伯近亲家庭中发现了痉挛性截瘫 47 型（SPG47）的新位置，这些患者有进行性痉挛性截瘫、智力残疾、癫痫、脑室周围白质改变和胼胝体变薄。通过外显子组测序，我们现在在这个家庭中发现了一个新的 AP4B1 移码突变（c.664delC）。该突变在两个受影响的兄弟姐妹中是纯合的，在父母双方都是杂合的。在 316 个白种人和 200 个种族匹配的对照染色体中，突变等位基因不存在。我们提出 AP4B1 突变导致 SPG47，并且应该在伴有智力残疾的早发性痉挛性截瘫中考虑这种突变。
