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    Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
    2
    1. Vibhor 26 Jul 2026
      Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

      PMID: 18334942

      Gene: ABCA4

      HGNC ID: 34

      Case#: patient 33, male, Spanish

      DiseaseAssertion: STGD

      FamilyInfo: Figure 1. Both parents and two siblings of the proband were heterozygous for ABCA4 c.5413A>G allele. Sister affected despite heterozygosity.

      CasePresentingHPOs: HP:0007663, HP:0030786, HP:0007722

      CaseHPOFreeText: myopia, astigmatism, opafication of posterior pole of lens, hyperpigmentation, a few central yellowish flecks, shallow peripheral scotomas in both eyes, full-field ERG response showed slightly reduced—but still within the normal range—amplitudes for rod, mixed cone-rod, cone single flash, and cone flicker, respectively.

      CasePreviousTesting: n/a

      GenotypingMethod: microarray

      PreviouslyPublished: 11385708, 12442277

      Variant: ABCA4 p.Asn1805Asp (c.5413A>G)

      ClinVar: 99373 https://www.ncbi.nlm.nih.gov/clinvar/variation/99373/?term=%22ABCA4%22%5BGENE%5D+AND+%22p.Asn1805Asp%22%5BVARNAME%5D+AND+%22(c.5413A%3EG)%22%5BVARNAME%5D

      gnomAD: 0.000009292 https://gnomad.broadinstitute.org/variant/1-94014590-T-C?dataset=gnomad_r4

      General ABCA4 HGNC:34 PMID:18334942 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

      PMID: 18334942

      Gene: ABCA4

      HGNCID: 34

      Case#: patient 26, female, Spanish

      DiseaseAssertion: early onset RP

      FamilyInfo: Figure 1. One brother homozygous for ABCA4 c.5413A.G allele, parents and one brother heterozygous for ABCA4 c.5413A>G allele. All three brothers and father carriers of p.Cys948Tyr allele on the CRB1 gene. Mother heterozygous for p. Trp822ter (c.2465G>A)

      CasePresentingHPOs: HP:0000662, HP:0001133, HP:0007663,

      CaseHPOFreeText: hyperopia, astigmatism, nystagmus, roundish pigments distributed across entire retina including peripheral retina, posterior pole, and macular region, filiform constriction on retinal vessels.

      CasePreviousTesting: N/A

      GenotypingMethod: Microarray

      PreviouslyPublished: 11385708, 12442277

      Variant: ABCA4 p.Asn1805Asp (c.5413A>G)

      ClinVar: 99373 https://www.ncbi.nlm.nih.gov/clinvar/variation/99373/?term=%22ABCA4%22%5BGENE%5D+AND+%22p.Asn1805Asp%22%5BVARNAME%5D+AND+%22(c.5413A%3EG)%22%5BVARNAME%5D

      gnomAD: 0.000009292 https://gnomad.broadinstitute.org/variant/1-94014590-T-C?dataset=gnomad_r4

      General ABCA4 HGNC:34 PMID:18334942 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC2258218/