8 results on '"Condroyer, Christel"'
Search Results
2. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
- Author
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Zeitz, Christina, Navarro, Julien, Azizzadeh Pormehr, Leila, Méjécase, Cécile, Neves, Luiza M., Letellier, Camille, Condroyer, Christel, Albadri, Shahad, Amprou, Andréa, Antonio, Aline, Ben-Yacoub, Tasnim, Wohlschlegel, Juliette, Andrieu, Camille, Serafini, Malo, Bianco, Lorenzo, Antropoli, Alessio, Nassisi, Marco, El Shamieh, Said, Chantot-Bastaraud, Sandra, Mohand-Saïd, Saddek, Smirnov, Vasily, Sahel, José-Alain, Del Bene, Filippo, and Audo, Isabelle
- Published
- 2024
- Full Text
- View/download PDF
3. Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
- Author
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Bujakowska, Kinga, primary, Sangermano, Riccardo, additional, Gupta, Priya, additional, Price, Cherrell, additional, Han, Jinu, additional, Navarro, Julien, additional, Condroyer, Christel, additional, Place, Emily, additional, Antonio, Aline, additional, Mukai, Shizuo, additional, Zanlonghi, Xavier, additional, Sahel, José-Alain, additional, Duncan, Jacque, additional, Pierce, Eric, additional, Zeitz, Christina, additional, Audo, Isabelle, additional, and Huckfeldt, Rachel, additional
- Published
- 2024
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4. Variants in UBAP1Llead to autosomal recessive rod-cone and cone-rod dystrophy
- Author
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Zeitz, Christina, Navarro, Julien, Azizzadeh Pormehr, Leila, Méjécase, Cécile, Neves, Luiza M., Letellier, Camille, Condroyer, Christel, Albadri, Shahad, Amprou, Andréa, Antonio, Aline, Ben-Yacoub, Tasnim, Wohlschlegel, Juliette, Andrieu, Camille, Serafini, Malo, Bianco, Lorenzo, Antropoli, Alessio, Nassisi, Marco, El Shamieh, Said, Chantot-Bastaraud, Sandra, Mohand-Saïd, Saddek, Smirnov, Vasily, Sahel, José-Alain, Del Bene, Filippo, and Audo, Isabelle
- Abstract
Progressive inherited retinal degenerations (IRDs) affecting rods and cones are clinically and genetically heterogeneous and can lead to blindness with limited therapeutic options. The major gene defects have been identified in subjects of European and Asian descent with only few reports of North African descent.
- Published
- 2024
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5. Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
- Author
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Bauwens, Miriam, De Man, Vincent, Audo, Isabelle, Balikova, Irina, Zein, Wadih M., Smirnov, Vasily, Held, Sebastian, Vermeer, Sascha, Loos, Elke, Jacob, Julie, Casteels, Ingele, Désir, Julie, Depasse, Fanny, Van de Sompele, Stijn, Van Heetvelde, Mattias, De Bruyne, Marieke, Andrieu, Camille, Condroyer, Christel, Antonio, Aline, and Hufnagel, Robert
- Subjects
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SENSORINEURAL hearing loss , *USHER'S syndrome , *GENETIC disorders , *NEURONAL ceroid-lipofuscinosis , *SULFATASES - Abstract
Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod‐cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes. Among the ultra‐rare and recently discovered genes is ARSG, coding for the lysosomal sulfatase Arylsulfatase G. This subtype was assigned as “USH IV” with a late onset of RP and usually late‐onset progressive SNHL without vestibular involvement. Here, we describe nine new subjects and the clinical description of four cases with the USH IV phenotype bearing seven novel and two known pathogenic variants. Functional experiments indicated the complete loss of sulfatase enzymatic activity upon ectopic expression of mutated ARSG cDNA. Interestingly, we identified a homozygous missense variant, p.(Arg99His), previously described in dogs with neuronal ceroid lipofuscinosis. Our study expands the genetic landscape of ARSG‐USH IV and the number of known subjects by more than 30%. These findings highlight that USH IV likely has been underdiagnosed and emphasize the need to test molecularly unresolved subjects with deafblindness syndrome. Finally, testing of ARSG should be considered for the genetic work‐up of apparent isolated inherited retinal diseases. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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6. Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.
- Author
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Amprou A, Yacoub TB, Letellier C, Degaetano V, Méjécase C, Pormehr LA, Condroyer C, Slembrouck-Brec A, Wohlschlegel J, Goureau O, Zeitz C, and Audo I
- Abstract
A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy carrying the homozygous c.910-7G>A variant in UBAP1L. Three isogenic control iPSC lines derived from this affected subject line were created using CRISPR/Cas9 engineering. All iPSC lines expressing the pluripotency markers, were able to differentiate into the three germ layers, and exhibit a normal karyotype. These cellular models will provide a powerful tool to study disease mechanisms associated with the recently reported UBAP1L- associated retinal dystrophy and better understand the role of the protein in retinal physiology., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Isabelle Audo and Christina Zeitz reports financial support was provided by French National Research Agency. Isabelle Audo and Christina Zeitz reports financial support was provided by IHU FOReSIGHT. Isabelle Audo and Christina Zeitz reports financial support was provided by Foundation Fighting Blindness center. Isabelle Audo and Christina Zeitz reports financial support was provided by UNADEV. Andrea Amprou reports financial support was provided by Ministry of Higher Education and Scientific Research. Tasnim Ben Yacoub reports financial support was provided by Foundation of France. Olivier Goureau has patent #EP2WO2018149985 licensed to Licensee. Olivier Goureau and Amelie Slembrouck are inventors on patent (EP2WO2018149985) on hiPSC retinal differentiation and on the use of hiPSC retinal derivatives to treat retinal degeneration, licensed to Tennpoint Tx. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2024
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7. RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes.
- Author
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Bianco L, Antropoli A, Benadji A, Condroyer C, Antonio A, Navarro J, Sahel JA, Zeitz C, and Audo I
- Abstract
Purpose: To investigate the clinical, functional, and imaging characteristics in patients affected by inherited retinal diseases associated with RDH5 and RLBP1 gene variants, and to report novel genotype-phenotype correlations., Design: Retrospective single-center cohort study., Methods: Twenty-two patients with molecularly confirmed RLBP1-associated retinopathy and 5 with RDH5-associated retinopathy. Medical records were reviewed to obtain data on family history and ophthalmologic examinations, including retinal imaging and full-field electroretinography (ffERG). Genotype was determined by targeted next-generation sequencing followed by confirmation and familial segregation by Sanger sequencing., Results: The median (interquartile ranges) age at baseline for the RDH5 and RLBP1 cohort was 44.6 (38.2-67.9) years and 36.9 (23.1-45.2) years, respectively. Macular atrophy (MA) was found in approximately 80% of eyes from both cohorts. The RLBP1 genotype was associated with a lower macular volume by 0.28 mm
3 (95% CI, -0.46 to -0.11; P = .005) compared to the RDH5 genotype. In both genotypic cohorts, we found a significant annual rate of macular volume loss, estimated at -0.007 mm3 /y (95% CI, -0.012 to -0.001; P = .02), without any significant difference between the two genotypes. Three unrelated patients homozygous for the c.361C>T p.(Arg121Trp) RLBP1 variant showed minimal impairment of both the rod and cone systems function on ffERG and absence of MA., Conclusions: Progressive MA in addition to congenital night blindness can be identified in adult patients with RDH5-associated retinopathy. Vice versa, hypomorphic RLBP1 variants may cause milder retinal phenotypes rather than the typical severe rod-cone dystrophy with MA. These findings could prove beneficial to improve the prognostication of patients and help in designing future interventional trials., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)- Published
- 2024
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8. Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
- Author
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Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, and Bujakowska KM
- Abstract
Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. The implementation of next-generation sequencing in routine diagnostics, together with advanced clinical phenotyping including multimodal retinal imaging, have contributed to the increase of reports describing novel genotype-phenotype associations and phenotypic expansions. In this study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in CFAP410 , a ciliary gene previously associated with syndromic recessive Jeune syndrome. The most common retinal phenotypes were cone-rod and rod-cone dystrophies, but the clinical presentations were unified by their early onset as well as the severe impact on central visual function. Twelve variants were detected (three pathogenic, seven likely pathogenic, two of uncertain significance), eight of which were novel. One deep intronic change, c.373+91A>G, led to the creation of a cryptic splice acceptor site in intron four, followed by the inclusion of a 200- base pair pseudoexon and subsequent premature stop codon formation. To our knowledge this is the first likely pathogenic deep-intronic variant identified in this gene. Meta-analysis of all published and novel CFAP410 variants revealed no clear correlation between the severity of the CFAP410- associated phenotypes and the identified causal variants. This is supported by the fact that the frequently encountered missense variant p.(Arg73Pro), often found in syndromic cases, was also associated with non-syndromic retinal degeneration. This study expands the current knowledge of CFAP410 -associated ciliopathy by enriching its mutational landscape and supports its association with non-syndromic retinal degeneration., Competing Interests: COMPETING INTERESTS The authors declare no conflicts of interest.
- Published
- 2024
- Full Text
- View/download PDF
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