Genomes and Genes
Christian P Hamel
- Gene discovery and prevalence in inherited retinal dystrophiesChristian P Hamel
INSERM U 1051, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, BP 74103, 80, rue Augustin Fliche, 34091 Montpellier Cedex 5, France Electronic address
C R Biol 337:160-6. 2014..A similar study is currently undergoing for autosomal recessive retinitis pigmentosa. Finally, we have identified IMPG1 as a responsible gene for rare cases of macular vitelliform dystrophy with a dominant or recessive inheritance. ..
- Dominant optic atrophyGuy Lenaers
Institut des Neurosciences de Montpellier, U1051 de l INSERM, Université de Montpellier I et II, BP 74103, F 34091 Montpellier cedex 05, France
Orphanet J Rare Dis 7:46. 2012..The disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain...
- Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entityChristian P Hamel
Centre Hospitalier Regional et Universitaire, Centre de Référence Maladies Sensorielles Génétiques, Montpellier, France
Am J Ophthalmol 147:609-20. 2009..To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudodrusen-like appearance in middle-aged patients...
- Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1Elodie Dessalces
Genetics of Sensory Diseases, Centre Hospitalier Régional Universitaire de Montpellier, Montpellier, France
JAMA Ophthalmol 131:1314-23. 2013..Retinitis punctata albescens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in the fundus, in most cases caused by mutations in RLBP1...
- Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosaMohamed Ksantini
INSERM 1051, Institute for Neurosciences of Montpellier, Montpellier, France
Eur J Ophthalmol 22:647-53. 2012..Gene identification in retinitis pigmentosa is a prerequisite to future therapies. Accordingly, autosomal recessive retinitis pigmentosa families were genotyped to search for causative mutations...
- Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa familiesMaxime Hebrard
INSERM U 1051, Institute for Neurosciences of Montpellier, 80 rue Augustin Fliche, Montpellier Cedex 5, France
Eur J Hum Genet 19:1256-63. 2011..Only two affected individuals in each sibship were sufficient to lead to mutation identification by screening the best candidate gene selected by a combination of gene mapping and phenotype characterization...
- Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogramSafouane Ben Salah
Genetics of Sensory Diseases and Department of Ophthalmology, Hospital of Montpellier, Montpellier, France
Am J Ophthalmol 145:1099-106. 2008..To describe patients with cone dystrophy and supernormal rod electroretinogram (ERG) and search for mutations in the recently described KCNV2 gene...
- Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet
CHRU Montpellier, Genetics of Sensory Diseases, Montpellier, France
Ophthalmic Epidemiol 20:13-25. 2013..Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France...
- Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysisIsabelle Meunier
Centre de Référence Maladies Sensorielles Génétiques, Hopital Gui de Chauliac, Montpellier, France
Ophthalmology 118:1130-6. 2011....
- Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescensGhyslaine Humbert
INSERM Unité 583, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, BP 74103, 80 rue Augustin Fliche, 34091 Montpellier Cedex 5, France
Invest Ophthalmol Vis Sci 47:4719-24. 2006..RPA is associated mostly with mutations in RLBP1 and occasionally in RHO, RDS, and RDH5. In this study, mutations were sought in RLBP1, which encodes the retinol binding protein CRALBP in patients with typical RPA...
- Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterationsKarim Chekroud
INSERM U1051, Institute for Neurosciences of Montpellier, CHU St Eloi, Montpellier, France
PLoS ONE 7:e50231. 2012..These anomalies lead us to speculate that the absence of FATP1 accelerates the aging process...
- Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome geneSalah Mohamed Cherif Titah
CHRU Montpellier, Centre de Référence Genetic Sensory Diseases, Montpellier, France
Eur J Ophthalmol 22:254-8. 2012..The presence of a cataract has been variably mentioned in WS...
- Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes
INSERM U1051, Institute for Neurosciences of Montpellier, Universite Montpellier 1, Montpellier, France
Am J Hum Genet 93:571-8. 2013..We conclude that IMPG1 mutations cause both autosomal-dominant and -recessive forms of VMD, thus indicating that impairment of the interphotoreceptor matrix might be a general cause of VMD. ..
- RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseasesMohamed Ksantini
INSERM, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, Montpellier, Cedex, France
Ophthalmic Genet 28:31-7. 2007..We conclude that RRH is not a frequent gene in retinitis pigmentosa...
- Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variationsMohamed Ksantini
Genetics of Sensory Diseases, Hospital of Montpellier, Montpellier, France
Ophthalmic Genet 31:200-4. 2010..It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies...
- FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferaseThomas J P Guignard
INSERM U583, Institut des Neurosciences de Montpellier, Montpellier 34091, France
J Biol Chem 285:18759-68. 2010..The identification of this new visual cycle inhibitory component in RPE may contribute to further understanding of retinal pathogenesis...
- Simple and efficient: validation of a cotton wick electrode for animal electroretinographyKarim Chekroud
INSERM U583, Institute for Neurosciences of Montpellier, CHU Saint Eloi, Montpellier, France
Ophthalmic Res 45:174-9. 2011..The need of a simple and effective electrode type has led us to search the efficacy of different types of electrodes used in practice and compare them with the modified cotton wick electrode...
- The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouseEmmanuelle Sarzi
Institut des Neurosciences de Montpellier, INSERM U1051, Université Montpellier I et II CHU St Eloi, 80, rue Auguste Fliche, 34091 Montpellier Cedex 5, France
Brain 135:3599-613. 2012..Thus, these results support the concept that Opa1 protects against neuronal degeneration and opens new perspectives for the exploration and the treatment of mitochondrial diseases...
- Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variantsLorenne Robert
INSERM U 583, Institut des Neurosciences de Montpellier, Montpellier, France
Ophthalmic Res 45:155-63. 2011..These results suggest that a CHM dog model may not be viable, as is the case for mouse and zebrafish...
- Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutationsBeatrice Bocquet
INSERM U 1051, Institute for Neurosciences of Montpellier, Montpellier, France Université Montpellier 1, Montpellier, France Université Montpellier 2, Montpellier, France
Mol Vis 19:2487-500. 2013..To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygosity mapping to identify the causative mutation in a series of inbred families with arRP...
- A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1Gaël Manes
INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France
BMC Med Genet 12:54. 2011..To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD...
- A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-SubunitGaël Manes
INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France University of Montpellier 1, Montpellier, France University of Montpellier 2, Montpellier, France
PLoS ONE 9:e95768. 2014..Tyr314Cysfs*50 change results in the production of the truncated protein, which binds Pγ and causes constitutive activation of the phototransduction thus leading to the absence of rod adaptation. ..
- Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosisAudrey Sénéchal
Institut National de la Sante et de la Recherche Medicale INSERM, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, Montpellier Cedex 5, France
Am J Ophthalmol 142:702-4. 2006..To evaluate the mutation prevalence and phenotype in genes involved in the ocular retinoid metabolism...
- Cone rod dystrophiesChristian P Hamel
INSERM U 583, Physiopathologie et Therapie des deficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, BP 74103, 80 av, Augustin Fliche, 34091 Montpellier Cedex 05, France
Orphanet J Rare Dis 2:7. 2007..Management aims at slowing down the degenerative process, treating the complications and helping patients to cope with the social and psychological impact of blindness...
- Choroideremia: towards a therapyVasiliki Kalatzis
Institut National de la Santé et de la Recherche Médicale U1051, Institute for Neurosciences of Montpellier, Montpellier, France
Am J Ophthalmol 156:433-7.e3. 2013..To review what progress has been made towards the application of ocular gene therapy to prevent progressive vision loss in patients affected by choroideremia...