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. 2022 Oct 1;42(10):1958-1964.
doi: 10.1097/IAE.0000000000003543.

LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION

Chunli Chen  1   2 , Xiang Zhang  1 , Xiaoyan Peng  1   2 , Feng Hu  1   2 , Yizhe Cheng  1   2 , Peiquan Zhao  1
Affiliations

LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION

Chunli Chen et al. Retina. .

Abstract

Purpose: To analyze the clinical features of LRP5 gene mutation-related familial exudative vitreoretinopathy and explore the potential phenotype-genotype correlation on LRP5 gene.

Methods: Eighty-seven familial exudative vitreoretinopathy (FEVR) families with LRP5 mutations were selected from 722 FEVR patients, which were divided into 2 groups, including 22 autosomal-recessive FEVR (ar-FEVR) families and 65 autosomal-dominant FEVR (ad-FEVR) families. Clinical and genetic data were retrospectively analyzed. The potential phenotype-genotype correlation was explored from the mutation type and inheritance pattern.

Results: No significant difference between the LRP5 null mutation subgroup and the LRP5 missense mutation subgroup was observed in the proportion of FEVR stage and the ratio of ocular involvement. Instead, a significant difference between the LRP5 ar-FEVR subgroup and the LRP5 ad-FEVR subgroup was observed in the proportion of FEVR stage and the ratio of binocularly severe phenotype. The probands with LRP5 gene recessive mutation showed a higher incidence of severe phenotype. Moreover, the ratio of binocularly severe patients in ar-FEVR was nearly 3.5 times higher than that in ad-FEVR.

Conclusion: The severity of phenotype was more likely to be related to the synergistic effect of the variants.

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References

    1. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol 1969;68:578–594.
    1. Boonstra FN, van Nouhuys CE, Schuil J, et al. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2009;50:4379–4385.
    1. Pinson KI, Brennan J, Monkley S, et al. An LDL-receptor-related protein mediates Wnt signalling in mice. Nature 2000;407:535–538.
    1. Wehrli M, Dougan ST, Caldwell K, et al. Arrow encodes an LDL-receptor-related protein essential for Wingless signalling. Nature 2000;407:527–530.
    1. Li JK, Yian X, Zhang, et al. Spectrum of variants in 389 Chinese probands with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2018;59:5368–5381.

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