Title :

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

Author(s) :

Chesneau, B. [Auteur]
Aubert-Mucca, M. [Auteur]
Fremont, F. [Auteur]
Pechmeja, J. [Auteur]
Soler, V. [Auteur]
Isidor, B. [Auteur]
Nizon, M. [Auteur]
Dollfus, H. [Auteur]
Kaplan, J. [Auteur]
Fares-Taie, L. [Auteur]
Rozet, J. M. [Auteur]
Busa, T. [Auteur]
Lacombe, D. [Auteur]
Naudion, S. [Auteur]
Amiel, J. [Auteur]
Rio, M. [Auteur]
Attie-Bitach, T. [Auteur]
Lesage, C. [Auteur]
Thouvenin, D. [Auteur]
Odent, S. [Auteur]
Morel, G. [Auteur]
Vincent-Delorme, C. [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Boute, Odile [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Vanlerberghe, Clemence [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Dieux, Anne [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Boussion, Simon [Auteur]
CIC CHU ( Lille)/inserm
Faivre, L. [Auteur]
Pinson, L. [Auteur]
Laffargue, F. [Auteur]
Le Guyader, G. [Auteur]
Le Meur, G. [Auteur]
Prieur, F. [Auteur]
Lambert, V. [Auteur]
Laudier, B. [Auteur]
Cottereau, E. [Auteur]
Ayuso, C. [Auteur]
Corton-Pérez, M. [Auteur]
Bouneau, L. [Auteur]
Le Caignec, C. [Auteur]
Gaston, V. [Auteur]
Jeanton-Scaramouche, C. [Auteur]
Dupin-Deguine, D. [Auteur]
Calvas, P. [Auteur]
Chassaing, N. [Auteur]
Plaisancié, J. [Auteur]

Journal title :

Clinical Genetics

Abbreviated title :

Clin Genet

Volume number :

101

Pages :

494-506

Publisher :

Wiley

Publication date :

2022-02-16

ISSN :

1399-0004

English keyword(s) :

anterior segment dysgenesis
B3GLCT
CNV
FOXE3
microphthalmia
PAX6
Peters' anomaly
PITX3
SOX2

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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, ...
Show more >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.Show less >

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
CHU Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2023-06-05T07:09:55Z
2023-10-11T09:26:57Z