Journal of Bioanalysis & Biomedicine

Shyamal Mosalaganti

Publications

• Case Report
  In-Frame Insertion Mutation in the SPG11 Gene Causes Autosomal Recessive Spastic Paraplegia with Thin Corpus Callosum “In A” Turkish Family with Late Age of Onset of the Phenotype
  Author(s): Chiranjeevi Bodda, Moneef Shoukier, Shyamal Mosalaganti, Inga Zerr, Maren Breithaupt, Sara M Pilgram and Ashraf U MannanChiranjeevi Bodda, Moneef Shoukier, Shyamal Mosalaganti, Inga Zerr, Maren Breithaupt, Sara M Pilgram and Ashraf U Mannan
  
  recessive hereditary spastic paraplegia with thin corpus callosum (ARHSP-TCC) is one of the most prevalent forms of complex ARHSP. Mutations in the SPG11 gene are the most common cause for ARHSP-TCC and accounts for up to 70% of all cases. The mutational spectrum of SPG11 gene is broad as all types of DNA alterations are detected in the gene and most mutations lead to a premature truncation of the protein, suggesting “loss of function” as the likely pathogenic mechanism. In the current study, we report a consanguineous Turkish family with ARHSP inheritance manifesting white matter abnormalities including TCC with relatively late age of onset. Sequencing of SPG11 gene revealed a homozygous insertion of 15 nucleotides at position 6886 in exon 38 (c.6886_6900Dup15) leading to an in-frame insertion of five amino acids at codon 2296 (p.K2296_L2300Dup5.. Read More»
  DOI: 10.4172/1948-593X.1000142

  Abstract PDF