3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families
    2
    1. Vibhor 26 Jul 2026
      MD-0560ABCA423c.3386G>Tp.Arg1129Leu47c.6410G>Ap.Cys2137Tyr16NPABCR400

      Case#: Family MD-0560 Proband, 16yo at onset

      DiseaseAssertion: AR Stargardt

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: STGD diagnosed based on "bilateral central vision loss; fundus presenting with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; fluorescein angiography showing typical dark choroid; and normal electroretinogram (ERGs)." VA loss, VF loss, BCVA=0.1/0.1

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: n/a

      Variant: c.6410G>A (p.Cys2137Tyr); c.3386G>T (p.Arg1129Leu) found by ABCR400

      ClinVar: 2202779; 99224

      CAID: CA341277358; CA227116

      SupplementalData:

      ClinVarID: 2202779 CA341277358 CaseInfo Individual CA227116 ClinVarID: 99224 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      MD-0247ABCA423c.3386G>Tp.Arg1129Leu47c.6410G>Ap.Cys2137Tyr12YesABCR400 + dHPLC + HRMAguirre-Lamban et al. 2009 (8); Aguirre-Lamban et al. 2010 (16)

      Case#: Family MD-0247 Proband, 12yo at onset

      DiseaseAssertion: AR cone rod dystrophy

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: STGD diagnosed based on "bilateral central vision loss; fundus presenting with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinogram (ERGs)." VA loss, VF loss, BCVA=0.05/0.1, cone-pattern on ERG

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: Aguirre-Lamban et al. 2009 (8); PMID: 19959634

      Variant: c.6410G>A (p.Cys2137Tyr); c.3386G>T (p.Arg1129Leu) found by ABCR400 + dHPLC + HRM

      ClinVar: 2202779; 99224

      CAID: CA341277358; CA227116

      SupplementalData:

      ClinVarID: 2202779 CA341277358 CaseInfo Individual PreviouslyPublished CA227116 ClinVarID: 99224 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC3808491/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
    1
    1. Vibhor 26 Jul 2026
      Interestingly, we identified one 30-year-old patient (ARDM-247), double heterozygous for the p.Arg1129Leu and p.Cys2137Tyr alleles, who presented a CRD phenotype. This p.Cys2137Tyr change was located more towards the amino terminus. Moreover, in other study, the results showed that the changes located in this zone appear to result in altered processing of the protein and to be associated with an earlier onset of disease.16 The p.Cys2137Tyr change in combination with the p.Arg1129Leu allele produced a CRD phenotype. Therefore, we speculate that the novel p.Cys2137Tyr variant could be a severe allele which is modifying the patient’s phenotype.

      Case#: Family MD-0247/ARDM-247 Proband, 12yo at onset

      DiseaseAssertion: AR cone rod dystrophy

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: STGD diagnosed based on "bilateral central vision loss; fundus presenting with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinogram (ERGs)." VA loss, VF loss, BCVA=0.05/0.1, cone-pattern on ERG

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: n/a

      Variant: c.6410G>A (p.Cys2137Tyr); c.3386G>T (p.Arg1129Leu) found by ABCR400 + dHPLC + HRM

      ClinVar: 2202779

      CAID: CA341277358

      SupplementalData: n/a

      CaseInfo Individual CA341277358 ClinVarID: 2202779 ClinVarID: 99224 CA227116 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC2668911/