First evidence of <scp><i>SOX2</i></scp> mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Chesneau, Bertrand; Aubert-Mucca, Marion; Fremont, Félix; Pechméja, J.; Soler, V.; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares-Taie, Lucas; Rozet, Jean–Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attié‐Bitach, Tania; Lesage, Cécile; Thouvenin, Dominique; Odent, Sylvie; Morel, Godelieve; Vincent‐Delorme, Catherine; Boute, Odile; Vanlerberghe, Clémence; Dieux, Anne; Boussion, Simon; Faivre, Laurence; Pinson, Lucile; Laffargue, Fanny; Guyader, Gwenaël Le; Meur, Guylène Le; Prieur, Fabienne; Lambert, V.; Laudier, Béatrice; Cottereau, Edouard; Ayuso, Carmen; Corton-Pérez, Marta; Bouneau, Laurence; Caignec, Cédric Le; Gaston, Véronique; Jeanton-Scaramouche, Claire; Dupin-Deguine, Delphine; Calvas, Patrick; Chassaing, Nicolas; Plaisancié, Julie

doi:10.1111/cge.14123

Cited by 16 publications

(6 citation statements)

References 48 publications

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“…This work underlines the importance of genetic explorations in patients with PFV, particularly when PFV is bilateral and/or associated with additional ocular findings such as cataract and microphthalmia as well as extra‐ocular features. As shown previously (Chesneau et al, 2022; Courdier et al, 2022), the use of such NGS panel approach allowed us to explore simultaneously many genes involved in ocular development and thus to broaden the phenotype of previously known genes. Beyond the medical purpose for the family, the identification of new genes such as MIP will allow better understanding of the pathophysiology of this rare ocular development anomaly that remains unclear.…”

Section: Discussionmentioning

confidence: 78%

“…She underwent general pediatric examination as well as ophthalmological examination under general anesthesia, with slit lamp examination, fundus examination, intraocular pressure measurement using applanation tonometer (Perkins) and ocular ultrasound with Doppler, axial length and pachymetry measurement. The girl also benefited from a genetic testing consisting in an analysis of 119-ocular development genes using a dedicated NGS (Next-Generation Sequencing) panel, screening for both single nucleotide variant (SNVs) and copy number variant (CNVs), as previously described (Chesneau et al, 2022). Briefly, DNA was extracted from blood using the MagnaPure system (Roche Applied Science).…”

Section: Methodsmentioning

confidence: 99%

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First implication of MIP in bilateral microphthalmia with persistent fetal vasculature

Santorini

Chesneau

Koskas-Boublil

et al. 2023

American J of Med Genetics Pt A

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Persistent fetal vasculature (PFV) is a rare malformative ocular disorder resulting from the failure of the hyaloid vasculature to regress. The severity of the visual impairment is depending on the underlying eye defects, ranging from discreet hyaloid remnants to severe ocular anomalies. Although PFV is generally unilateral, sporadic and idiopathic, a genetic cause has been described in some individuals, especially those presenting with a bilateral and/or syndromic form of PFV. The genes occasionally described in PFV are most often responsible for a wide spectrum of ocular phenotypes such as ATOH7 or NDP, a gene also known to be involved in Norrie disease, a X‐linked vitreoretinopathy with extra‐ocular features. We describe here a patient with an ocular phenotype consisting in non‐syndromic bilateral PFV with cataract and microphthalmia, in whom a recurrent heterozygous de novo MIP disease‐causing variant was detected after using a dedicated 119‐ocular genes panel approach. Defects in the MIP gene are classically associated with dominant non‐syndromic congenital cataract without other ocular malformative features. Thus, this case highlights the value of exploring individuals with PFV, even those with non‐syndromic forms. It also broadens the phenotypic spectrum of the MIP gene, adding new insights into the gene networks underlying PFV pathophysiology, that remains unclear.

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Section: Discussionmentioning

confidence: 78%

Section: Methodsmentioning

confidence: 99%

First implication of MIP in bilateral microphthalmia with persistent fetal vasculature

Santorini

Chesneau

Koskas-Boublil

et al. 2023

American J of Med Genetics Pt A

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“…A SNV in SOX2 (NM_003106.4:c.611C > T; p.Ala204Val) in a patient with Peters anomaly (A200). Recently, SOX2 alterations have been associated with this condition [ 30 ]. Notwithstanding, this is the first time that this variant has been reported.…”

Section: Resultsmentioning

confidence: 99%

“…When less “narrow” technological approaches were employed, the number of patients analyzed was reduced with a significant decrease in diagnostic yield. Targeted sequencing, WES and WGS were performed with an average of 47% positive molecular diagnoses [ 11 , 30 , 57 , 58 ].…”

Section: Discussionmentioning

confidence: 99%

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Zucco,

Baldan,

Allegri

et al. 2024

J Hum Genet

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Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD.

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“…Damage to several homeotic genes (B3GLCT, PAX6, PITX3, FOXE3, and CYP1B1) has been reported to cause Peters anomaly. Notably, most cases of Peters anomaly are solitary; however, autosomal recessive and dominant inheritance patterns have also been reported [4,5]. Homeotic genes are involved in the development of the eye and other body structures; therefore, Peters anomaly is sometimes accompanied by systemic disease.…”

Section: Introductionmentioning

confidence: 99%

Risk and Prognostic Factors for Glaucoma Associated with Peters Anomaly

Yokota,

Hirooka,

Okada

et al. 2023

JCM

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Glaucoma secondary to Peters anomaly is an important factor affecting visual prognosis, but there are few reports on the condition. This study aimed to investigate the characteristics of glaucoma associated with Peters anomaly and glaucoma surgery outcomes. This retrospective study included 31 eyes of 20 patients with Peters anomaly. Peters anomaly was classified into three stages: Stage 1, with a posterior corneal defect only; Stage 2, a corneal defect with iridocorneal adhesion; and Stage 3, a corneal defect with lens abnormalities. The associations between glaucoma and anterior segment dysgenesis severity, visual prognosis, and glaucoma surgery outcomes were analyzed. Sixteen eyes of ten patients developed glaucoma. Stage 1 Peters anomaly had no glaucoma, 52% of Stage 2 had glaucoma, and 75% of Stage 3 had glaucoma. Of the 16 eyes with glaucoma, 11 underwent surgery. Eight of these eleven eyes achieved intraocular pressure (IOP) control. Five of the nine eyes that underwent trabeculotomy (TLO) succeeded, and none had corneal staphyloma. Three of the four eyes for which TLO was ineffective had corneal staphyloma (p = 0.0331). Patients with Peters anomaly are more likely to develop glaucoma as anterior segment dysgenesis progresses, and the effect of TLO is limited if corneal staphyloma is present.

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

Cited by 16 publications

References 48 publications

First implication of MIP in bilateral microphthalmia with persistent fetal vasculature

First implication of MIP in bilateral microphthalmia with persistent fetal vasculature

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Risk and Prognostic Factors for Glaucoma Associated with Peters Anomaly

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