Publications by authors named "L Bouneau"
Article Synopsis
- Oculo-auriculo-vertebral spectrum (OAVS) is a common cause of congenital head and neck malformations in children, characterized by a variety of defects including ear anomalies, facial asymmetry, and ocular problems, often linked to genetic factors.
- An international study of 17 OAVS patients identified a significant genetic microduplication, revealing a critical region associated with these malformations and highlighting the severity of ear deformities in affected individuals.
- Research using zebrafish models showed that overexpression of the implicated gene impacts early craniofacial development, underscoring the importance of correct gene dosage for proper formation of facial structures.
Disruption of any of the ocular development steps can result in ocular defects such as microphthalmia, coloboma and anterior segment dysgeneses including aniridia and cataract. All of these anomalies can be isolated or seen in association with each other. Except for aniridia (almost exclusively due to PAX6 mutations), most of these congenital ocular malformations are related to a wide genetic heterogeneity, as hundreds of genes are implied in ocular development.
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- Peters' anomaly (PA) is a rare eye condition marked by issues like corneal opacity and adhesions related to the eye's anterior segment, linked to several genes such as B3GLCT and PAX6.
- Researchers studied 95 PA patients using advanced genetic techniques and found genetic defects in about one-third of them, with B3GLCT and PAX6 being the most common culprits.
- Notably, they discovered SOX2, a gene associated with microphthalmia, in some PA patients, highlighting its unexpected role in this condition and the need for further genetic exploration in PA cases.
Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported.
View Article and Find Full Text PDFWe report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.
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