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Case Reports
. 2010 Feb 10:16:207-12.

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

Mohammed A Aldahmesh  1 , Mohammed Al-Owain, Faisal Alqahtani, Salwa Hazzaa, Fowzan S Alkuraya
Affiliations
Case Reports

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

Mohammed A Aldahmesh et al. Mol Vis. .

Abstract

Purpose: To describe the finding of a novel calcium binding protein 4 (CABP4) mutation in a family with Leber congenital amaurosis (LCA) phenotype.

Methods: Homozygosity mapping was performed in a consanguineous family with four affected members originally referred as cases of LCA. Detailed electroretinographic recordings were obtained.

Results: A novel homozygous single base-pair insertion was identified in all four siblings. The patients had an LCA-like phenotype, including either flat or greatly diminished electroretinographic activity.

Conclusions: This report significantly expands on the phenotype associated with calcium binding protein 4 mutations, which has so far been limited to congenital stationary night blindness, and further demonstrates how molecular data often blur the boundaries between what are believed to be clinically distinct retinal disorders.

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Figures

Figure 1
Figure 1
Family pedigree with a novel CABP4 mutation. The upper panel shows the pedigree of a consanguineous family with four affected children. The square denotes male, the circle denotes female, the central dot indicates the carrier state, and the solid filling indicates the affected state. The lower panel shows sequence chromatogram with the site of insertion indicated by the arrow. Carrier and Normal (same family) are shown for comparison.
Figure 2
Figure 2
Schematic of CABP4 gene. Previously reported mutations are indicated by empty triangles, and our novel mutation is indicated by a solid triangle.
Figure 3
Figure 3
ERG findings in a family with an LCA-like phenotype secondary to the CABP4 mutation. Scotopic and photopic ERG readings are shown for each of the four affected members, who are referred to using the IDs in Figure 1 and Table 1 (II-2, II-3, II-4, and II-6).
See this image and copyright information in PMC

References

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