title: Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family.
abstract: BACKGROUND
  Hereditary spastic paraplegia (HSP) is a neurodegenerative disease that is characterized by progressive weakness and spasticity of the lower extremities; HSP can present as complicated forms with additional neurological signs. More than 70 disease loci have been described with different modes of inheritance.
  
  
  METHODS
  In this study, nine subjects from a Chinese family that included two individuals affected by HSP were examined through detailed clinical evaluations, physical examinations, and genetic tests. Targeted exome capture technology was used to identify gene mutations.
  
  
  RESULTS
  Two novel compound heterozygous mutations in the SPG 11 gene were identified, c.4001_4002insATAAC and c.4057C>G. The c.4001_4002insATAAC mutation leads to a reading frame shift during transcription, resulting in premature termination of the protein product. The missense mutation c.4057C>G (p.H1353D) is located in a highly conserved domain and is predicted to be a damaging substitution.
  
  
  CONCLUSIONS
  Based on the results described here, we propose that these novel compound heterozygous mutations in SPG 11 are the genetic cause of autosomal recessive HSP in this Chinese family.
authors.affiliation: 1Department of Neurology,Xuan Wu Hospital,Capital Medical University,Beijing 100053,China.
authors.forename: Xiaojie
authors.initials: X
authors.lastname: Tian
authors.affiliation: 1Department of Neurology,Xuan Wu Hospital,Capital Medical University,Beijing 100053,China.
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.affiliation: 2Department of Radiology,Xuan Wu Hospital,Capital Medical University,Beijing 100053,China.
authors.forename: Kaiyuan
authors.initials: K
authors.lastname: Zhang
authors.affiliation: 1Department of Neurology,Xuan Wu Hospital,Capital Medical University,Beijing 100053,China.
authors.forename: Xinqing
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D044466:Asian People; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology
chemical_list: D011506:Proteins; C520412:SPG11 protein, human
keywords: 
                 SPG 11
              ; Genetics; Hereditary spastic paraplegia; Mutation; Targeted exome capture; Thin corpus callosum