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5 Possible Causes for Mutation in the TTLL5 Gene, Relative Paracentral Scotoma in 2:3 of Patients

  • Peripheral Cone Dystrophy

    Molecular validation of the candidate variants The novel mutation in the TTLL5 gene (c.182–3_182–1delinsAA) was validated using conventional Sanger sequencing according to[molvis.org] […] and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. ( 29057815 ) El Shamieh S....Zeitz C. 2017 15 Novel splice-site mutation in TTLL5 causes cone[malacards.org] However, no disease-causing mutations in the genes underlying icCSNB were identified.[molvis.org]

  • Cone Rod Dystrophy Type 15
    Missing: Relative Paracentral Scotoma in 2:3 of Patients
  • Cone Rod Dystrophy Type 19
    Missing: Relative Paracentral Scotoma in 2:3 of Patients
  • Retinal Dystrophy

    Our study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these[ncbi.nlm.nih.gov]

    Missing: Relative Paracentral Scotoma in 2:3 of Patients
  • Retinal Cone Dystrophy Type 3B

    CNNM4 was also excluded from the list of targeted genes since mutations in this gene are distinctively associated with amelogenesis imperfecta as part of Jalili syndrome [[ojrd.biomedcentral.com] In addition, the implication of three novel genes C21Orf2 [ 28 ], RAB28 [ 29 ] and TTLL5 [ 30 ] in CCRD were identified and published after the design of the panel and consequently[ojrd.biomedcentral.com]

    Missing: Relative Paracentral Scotoma in 2:3 of Patients

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