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4 Possible Causes for Mutation in the TTLL5 Gene, Non-Detectable Photopic Responses on Electroretinography

  • Cone Rod Dystrophy
  • 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]

    Missing: Non-Detectable Photopic Responses on Electroretinography
  • 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: Non-Detectable Photopic Responses on Electroretinography
  • Cone Dystrophy with Supernormal Rod Response

    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: Non-Detectable Photopic Responses on Electroretinography

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