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. 2022 May;101(5-6):494-506.
doi: 10.1111/cge.14123. Epub 2022 Feb 27.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Bertrand Chesneau  1   2 , Marion Aubert-Mucca  1 , Félix Fremont  2   3 , Jacmine Pechmeja  2   3 , Vincent Soler  2   3 , Bertrand Isidor  4 , Mathilde Nizon  4 , Hélène Dollfus  5 , Josseline Kaplan  6 , Lucas Fares-Taie  6 , Jean-Michel Rozet  6 , Tiffany Busa  7 , Didier Lacombe  8 , Sophie Naudion  8 , Jeanne Amiel  9 , Marlène Rio  9 , Tania Attie-Bitach  10 , Cécile Lesage  11 , Dominique Thouvenin  12 , Sylvie Odent  13   14 , Godelieve Morel  13   14 , Catherine Vincent-Delorme  15 , Odile Boute  15 , Clémence Vanlerberghe  15 , Anne Dieux  15 , Simon Boussion  15 , Laurence Faivre  16 , Lucile Pinson  17 , Fanny Laffargue  18 , Gwenaël Le Guyader  19 , Guylène Le Meur  20 , Fabienne Prieur  21 , Victor Lambert  22 , Beatrice Laudier  23 , Edouard Cottereau  24 , Carmen Ayuso  25 , Marta Corton-Pérez  25 , Laurence Bouneau  1 , Cédric Le Caignec  1 , Véronique Gaston  1 , Claire Jeanton-Scaramouche  1 , Delphine Dupin-Deguine  1 , Patrick Calvas  1   2 , Nicolas Chassaing  1   2 , Julie Plaisancié  1   2   26
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Free article

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Bertrand Chesneau et al. Clin Genet. 2022 May.
Free article

Abstract

Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy number variations (CNVs) have also been occasionally reported. Despite this genetic heterogeneity, most of patients remain without genetic diagnosis. We retrieved a cohort of 95 individuals with PA and performed genotyping using a combination of comparative genomic hybridization, whole genome, exome and targeted sequencing of 119 genes associated with ocular development anomalies. Causative genetic defects involving 12 genes and CNVs were identified for 1/3 of patients. Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, the third gene involved in our cohort was SOX2, the major gene of micro-anophthalmia. Four unrelated patients with PA (isolated or with microphthalmia) were carrying pathogenic variants in this gene that was never associated with PA before. Here we described the largest cohort of PA patients ever reported. The genetic bases of PA are still to be explored as genetic diagnosis was unavailable for 2/3 of patients. Nevertheless, we showed here for the first time the involvement of SOX2 in PA, offering new evidence for its role in corneal transparency and anterior segment development.

Keywords: B3GLCT; CNV; CYP1B1; FOXE3; PAX6; PITX3; Peters' anomaly; SOX2; anterior segment dysgenesis; microphthalmia.

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References

REFERENCES

    1. Kurilec JM, Zaidman GW. Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. Cornea. 2014;33(8):848, doi:10.1097/ICO.0000000000000182-850.
    1. Ma AS, Grigg JR, Jamieson RV. Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Hum Genet. 2019;138(8):899-915. doi:10.1007/s00439-018-1935-7
    1. Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR. Peters anomaly: review of the literature. Cornea. 2011;30(8):939, doi:10.1097/ICO.0b013e31820156a9-944.
    1. Matsubara A, Ozeki H, Matsunaga N, et al. Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. Br J Ophthalmol. 2001;85(12):1421, doi:10.1136/bjo.85.12.1421-1425.
    1. Weigele J, Bohnsack BL. Genetics underlying the interactions between neural crest cells and eye development. J Dev Biol. 2020;8(4):26, doi:10.3390/jdb8040026.

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