A case report of SPG11 mutations in a Chinese ARHSP-TCC family. Issue 1 (December 2016) - Zhang, Linwei
Abstract Background Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in theSpastic Paraplegia gene 11 (SPG11 ) account for a large proportion of ARHSP-TCC cases worldwide. Case presentation We describe a Chinese family with ARHSP-TCC. Two daughters of this family presented with a spastic gait and cognitive impairment. Brain imaging of the index patient revealed a thin corpus callosum. We performed detailed physical and auxiliary examinations and were able to exclude acquired causes of spastic paraplegia. To determine the causative mutation, we took a candidate gene approach and screened the coding sequence and some flanking intronic sequence ofSPG11 by direct Sanger sequencing. We identified two novel compound heterozygous mutations inSPG11 in affected individuals (c.1551_1552delTT, p.Cys518SerfsTer39 and c.5867-1G > T (IVS30-1G > T), p.Thr1956ArgfsTer15). Bioinformatic analysis predicts that these mutations would lead to a loss of protein function due to the truncation of theSPG11 protein. Conclusions The results of this case report indicate a broader approach to include screening forSPG11 mutations in ARHSP-TCC patients. Our findings enrich the phenotypic spectrum ofSPG11 mutations.