| Title: |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia |
| Authors: |
Chassaing, Nicolas; Causse, A.; Vigouroux, A.; Delahayes, A.; Alessandri, J.-L.; Boespflug-Tanguy, O.; Boute-Benejean, O.; Dollfus, H.; Duban-Bedu, B.; Gilbert-Dussardier, B.; Giuliano, F.; Gonzales, M.; Holder-Espinasse, M.; Isidor, B.; Jacquemont, M.-L.; Lacombe, D.; Martin-Coignard, D.; Mathieu-Dramard, M.; Odent, S.; Picone, O.; Pinson, L.; Quelin, C.; Sigaudy, Sabine; Toutain, A.; Thauvin-Robinet, C.; Kaplan, Josseline; Calvas, Patrick |
| Contributors: |
Centre Hospitalier Universitaire de Toulouse (CHU Toulouse); Université Toulouse III - Paul Sabatier (UT3); Communauté d'universités et établissements de Toulouse (Comue de Toulouse); UFR Santé, Médecine et Biologie Humaine (UFR SMBH); Université Sorbonne Paris Nord; Physiopathologie et neuroprotection des atteintes du cerveau en développement; Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM); Centre Hospitalier Universitaire de La Réunion (CHU La Réunion); AP-HP Hôpital universitaire Robert-Debré Paris; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP); Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); Service de génétique médicale; Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg); Hôpitaux Universitaires de Strasbourg (HUS)-Hôpitaux Universitaires de Strasbourg (HUS)-Hôpital de Hautepierre Strasbourg; Hôpitaux Universitaires de Strasbourg (HUS); Groupe Hospitalier de l'Institut Catholique de Lille (GHICL); Université catholique de Lille (UCL); Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ); Hôpital Archet 2 Nice (CHU); Universidad Politécnica de Madrid (UPM); CHU Trousseau APHP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU); Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC); Université Pierre et Marie Curie - Paris 6 (UPMC); Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes); Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux); Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM); Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM); Centre Hospitalier Le Mans (CH Le Mans); CHU Amiens-Picardie; Centre Hospitalier Universitaire Rennes; Hôpital de la Timone CHU - APHM (TIMONE); Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon); Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon); Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781); Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM) |
| Source: |
ISSN: 0009-9163. |
| Publisher Information: |
CCSD; Wiley |
| Publication Year: |
2014 |
| Collection: |
Université de la Réunion: HAL |
| Subject Terms: |
microphthalmia; anophthalmia; VSX2; SOX2; RAX; PAX6; OTX2; GDF6; FOXE3; MESH: Adolescent; MESH: Adult; MESH: Repressor Proteins / genetics; MESH: Anophthalmos / genetics; MESH: Female; MESH: Forkhead Transcription Factors / genetics; MESH: Genetic Heterogeneity; MESH: Anophthalmos / pathology; MESH: Child; Preschool; MESH: Eye Proteins / genetics; MESH: Growth Differentiation Factor 6 / genetics; MESH: Microphthalmos / diagnosis; MESH: Microphthalmos / genetics; MESH: Microphthalmos / pathology; MESH: Homeodomain Proteins / genetics; MESH: Humans; MESH: Infant; MESH: Male; MESH: Otx Transcription Factors / genetics; MESH: SOXB1 Transcription Factors / genetics |
| Description: |
International audience ; Anophthalmia and microphthalmia (AM) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity has been reported and different genes have been demonstrated to be causative of syndromic and non-syndromic forms of AM. We screened seven AM genes [GDF6 (growth differentiation factor 6), FOXE3 (forkhead box E3), OTX2 (orthodenticle protein homolog 2), PAX6 (paired box 6), RAX (retina and anterior neural fold homeobox), SOX2 (SRY sex determining region Y-box 2), and VSX2 (visual system homeobox 2 gene)] in a cohort of 150 patients with isolated or syndromic AM. The causative genetic defect was identified in 21% of the patients (32/150). Point mutations were identified by direct sequencing of these genes in 25 patients (13 in SOX2, 4 in RAX, 3 in OTX2, 2 in FOXE3, 1 in VSX2, 1 in PAX6, and 1 in GDF6). In addition eight gene deletions (five SOX2, two OTX2 and one RAX) were identified using a semi-quantitative multiplex polymerase chain reaction (PCR) [quantitative multiplex PCR amplification of short fluorescent fragments (QMPSF)]. The causative genetic defect was identified in 21% of the patients. This result contributes to our knowledge of the molecular basis of AM, and will facilitate accurate genetic counselling. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/24033328; PUBMED: 24033328 |
| DOI: |
10.1111/cge.12275 |
| Availability: |
https://hal.science/hal-01064928; https://hal.science/hal-01064928v1/document; https://hal.science/hal-01064928v1/file/Chassaing_2014.pdf; https://doi.org/10.1111/cge.12275 |
| Rights: |
https://about.hal.science/hal-authorisation-v1/ ; info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.53702FA9 |
| Database: |
BASE |