known mutations SPG4 (Spastin): ~ 150 SPG3A (Atlastin): ~ 20 NIPA1: ~  3 Research only: BSCL2 Hereditary spastic paraplegi...
79 patients tested Identification rate in Molecular Medicine laboratory: SPG4 (Spastin)   24% SPG3A (Atlastin)   < 1% NIPA...
Missense Mutation            Nonsense Mutation Small Insertion/Deletion Mutation Insertion/Deletion of large DNA fragments...
  no. of detected mutation Missense Mutation   5        Nonsense Mutation   3 Small Insertion/Deletion Mutation   3 Insert...
<ul><li>DNA Scanning </li></ul><ul><li>Spastin & Atlastin </li></ul><ul><li>High Resolution Melt (HRM) – </li></ul><ul><li...
Exon no. 1  2  3  4  5  6  7  8  9  10  11  12  13  14  15  16  17  14 mutations idendified: 9 previously described 5 new ...
3 large deletions idendified SPG4 (Spastin): ~ 150 known mutations Hereditary spastic paraplegia – Genes & Mutations Exon ...
SPG3A (Atlastin): ~ 20 known mutations 1 undescribed mutation identified NIPA1: ~  3 known mutations no mutation Hereditar...
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Molmed testing

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Molmed testing

  1. 1. known mutations SPG4 (Spastin): ~ 150 SPG3A (Atlastin): ~ 20 NIPA1: ~ 3 Research only: BSCL2 Hereditary spastic paraplegia – Gene testing
  2. 2. 79 patients tested Identification rate in Molecular Medicine laboratory: SPG4 (Spastin) 24% SPG3A (Atlastin) < 1% NIPA1 - Hereditary spastic paraplegia – Genes
  3. 3. Missense Mutation           Nonsense Mutation Small Insertion/Deletion Mutation Insertion/Deletion of large DNA fragments Hereditary spastic paraplegia – Mutations Normal gga agt gac cta aca G S D L T Mutated gga agt a ac cta aca G S N L T Normal ggt cct atc cga gaa G P I R E Mutated ggt cct atc t ga gaa G P I stop <ul><li>c.1684C>T p.R562X </li></ul><ul><li>truncated, non functional </li></ul><ul><li>protein </li></ul><ul><li>c.1642G>A p.D548N </li></ul><ul><li>non functional protein </li></ul>Normal atc aaa cgg gta tat gtg tct tta cca aat gag gag I K R V Y V S L P N E E Mutated atc aaa c c g ggt ata tgt gtc ttt acc aaa tga gga I K P G I C V F T K stop <ul><li>c.1507-1508insC p.R503fsX511 </li></ul><ul><li>truncated, non functional </li></ul><ul><li>protein </li></ul>
  4. 4. no. of detected mutation Missense Mutation 5       Nonsense Mutation 3 Small Insertion/Deletion Mutation 3 Insertion/Deletion of large DNA fragments 3 14 Hereditary spastic paraplegia – Mutations
  5. 5. <ul><li>DNA Scanning </li></ul><ul><li>Spastin & Atlastin </li></ul><ul><li>High Resolution Melt (HRM) – </li></ul><ul><li>Missense, Nonsense, small insertion, small deletion </li></ul><ul><li>2. DNA sequencing </li></ul><ul><li>3. Multiplex Ligation-dependent Probe Amplification (MPLPA) – </li></ul><ul><li>Exon duplication, Exon deletion </li></ul><ul><li>NIPA1 </li></ul><ul><li>High Resolution Melt (HRM) – </li></ul><ul><li>Missense, Nonsense, small insertion, small deletion </li></ul><ul><li>Known mutations in Spastin, Atlastin & NIPA1 </li></ul><ul><li>1. DNA sequencing </li></ul>Hereditary spastic paraplegia – Mutation discovery
  6. 6. Exon no. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 14 mutations idendified: 9 previously described 5 new SPG4 (Spastin): ~ 150 known mutations Hereditary spastic paraplegia – Genes & Mutations Exon no. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 Number of identified mutations in Mol Med lab 1 1 - - - 1 - 1 1 - 1 1 2 1 2 1 - found in 2 unrelated individuals Number of known mutations 10 2 2 - 16 5 6 12 10 11 16 12 7 7 11 7 7
  7. 7. 3 large deletions idendified SPG4 (Spastin): ~ 150 known mutations Hereditary spastic paraplegia – Genes & Mutations Exon no. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17
  8. 8. SPG3A (Atlastin): ~ 20 known mutations 1 undescribed mutation identified NIPA1: ~ 3 known mutations no mutation Hereditary spastic paraplegia – Genes & Mutations

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