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1. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Author

Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, and Cremers, Frans

Subjects
inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins
Abstract

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37.2%), PRPH2 (6.7%), CDHR1 (6.1%), PROM1 (4.3%) and RP1L1 (3.1%). Interestingly, variants with incomplete penetrance were revealed in almost one-third of patients considered solved (28.1%), and therefore, a proportion of patients may not be explained solely by the variants reported. This includes eight previously reported variants with incomplete penetrance in addition to CDHR1:c.783G>A and CNGB3:c.1208G>A. Notably, segregation analysis was not routinely performed for variant phasing-a limitation, which may also impact the overall diagnostic yield. The relatively high proportion of probands without any putative causal variant (60.2%) highlights the need to explore variants with incomplete penetrance, the potential modifiers of disease and the genetic overlap between iMDs and age-related macular degeneration. Our results provide valuable insights into the genetic landscape of iMDs and warrant future exploration to determine the involvement of other maculopathy genes.

Published
2024

5. The MAPT gene is differentially methylated in the progressive supranuclear palsy brain

Author

Huin, Vincent, Deramecourt, Vincent, Caparros-Lefebvre, Dominique, Maurage, Claude-Alain, Duyckaerts, Charles, Kovari, Eniko, Pasquier, Florence, Buée-Scherrer, Valérie, Labreuche, Julien, Behal, Hélène, Buée, Luc, Dhaenens, Claire-Marie, and Sablonnière, Bernard

Subjects
Quantitative Biology - Genomics, Quantitative Biology - Neurons and Cognition
Abstract

Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease causing parkinsonian symptoms. Altered DNA methylation of the microtubule-associated protein tau gene correlates with the expression changes in Alzheimer's disease and Parkinson's disease brains. However, few studies examine the sequences beyond the constitutive promoter.Objectives: Because activating different microtubule associated protein tau gene control regions via methylation might regulate the differential tau expression constituting the specific signatures of individual tauopathies, we compared methylation of a candidate promoter, intron 0.Methods: We assessed DNA methylation in the brains of patients with different tauopathies (35 Alzheimer's disease, 10 corticobasal degeneration, and 18 PSP) and 19 controls by intron 0 pyrosequencing. We also evaluated methylation in an independent cohort of 11 PSP cases and 12 controls. Frontal (affected by tau pathology) and occipital (unaffected) cortices were analyzed.Results: In the initial samples, one CpG island site in intron 0 (CpG1) showed significant hypomethylation in PSP-affected frontal cortices when compared with controls (p = 0.022). Such hypomethylation was observed in replicate samples, but not in occipital cortices or other tauopathies. PSP and control samples (combining the initial and replicate samples) remained significantly different after adjustment for potential confounding factors (age, H1/H1 diplotype; p = 0.0005). PSP-affected tissues exhibited microtubule-associated protein tau RNA hyperexpression when compared with controls (p = 0.004), although no correlation with CpG1 methylation was observed.Conclusions: This exploratory study suggests that regions other than the constitutive promoter may be involved in microtubule-associated protein tau gene regulation in tauopathies and that intron 0 hypomethylation may be a specific epigenetic signature of PSP. These preliminary findings require confirmation.

Published
2020
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6. Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases

Author

Huin, Vincent, Dhaenens, Claire-Marie, Homa, Mégane, Carvalho, Kévin, Buée, Luc, and Sablonnière, Bernard

Subjects
Quantitative Biology - Quantitative Methods, Quantitative Biology - Neurons and Cognition
Abstract

Adenosine receptors are G-protein-coupled receptors involved in a wide range of physiological and pathological phenomena in most mammalian systems. All four receptors are widely expressed in the central nervous system, where they modulate neurotransmitter release and neuronal plasticity. A large number of gene association studies have shown that common genetic variants of the adenosine receptors (encoded by the ADORA1, ADORA2A, ADORA2B and ADORA3 genes) have a neuroprotective or neurodegenerative role in neurologic/psychiatric diseases. New genetic studies of rare variants and few novel associations with depression or epilepsy subtypes have recently been reported. Here, we review the literature on the genetics of adenosine receptors in neurologic and/or psychiatric diseases in humans, and discuss perspectives for further genetic research. We also provide an update on the genetic structures of the four human adenosine receptor genes and their regulation - a topic that has not been extensively addressed. Our review emphasizes the importance of (i) better characterizing the genetics of adenosine receptor genes and (ii) understanding how these genes are regulated.

Published
2020
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7. Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

Author

Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire-Marie, and Cremers, Frans P.M.

Published
2023
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8. Cardiac Outcomes in Adults With Mitochondrial Diseases

Author

Savvatis, Konstantinos, Vissing, Christoffer Rasmus, Klouvi, Lori, Florian, Anca, Rahman, Mehjabin, Béhin, Anthony, Fayssoil, Abdallah, Masingue, Marion, Stojkovic, Tanya, Bécane, Henri Marc, Berber, Nawal, Mochel, Fanny, Duboc, Denis, Fontaine, Bertrand, Krett, Bjørg, Stalens, Caroline, Lejeune, Julie, Pitceathly, Robert D.S., Lopes, Luis, Saadi, Malika, Gossios, Thomas, Procaccio, Vincent, Spinazzi, Marco, Tard, Céline, De Groote, Pascal, Dhaenens, Claire-Marie, Douillard, Claire, Echaniz-Laguna, Andoni, Quinlivan, Ros, Hanna, Michael G., Yilmaz, Ali, Vissing, John, Laforêt, Pascal, Elliott, Perry, and Wahbi, Karim

Published
2022
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9. Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.

Author

Mainguy, Adam, Dhaenens, Claire Marie, Poncet, Anais, Billaud, Fanny, Giraud, Lyse, Zanlonghi, Xavier, Masse, Hélène, and Le Meur, Guylène

Subjects
*GENETIC testing, *RHODOPSIN, *PHENOTYPIC plasticity, *RNA, *PHENOTYPES
Abstract

Background: This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vitreoretinochoroidopathy (ADVIRC). The study focuses on a case presenting a novel mutation in the BEST1 gene and its phenotype in the case's relatives, shedding light on the structural and functional intricacies underlying this rare ophthalmologic disorder. Case Presentation: A 33-year-old female presented for consultation with a history of bilateral retinal damage accompanied by a complaint of decreased visual acuity, progressive visual field deficit, and night blindness over the past year. Ophthalmic examination revealed a distinctive phenotype, including fibrillar vitreous, pigmented cells, and atrophic hyperpigmented retina in the periphery which was suggestive of a diagnosis of ADVIRC. Genetic testing revealed a heterozygous c.1101–1 G>T variant in BEST1, a novel splice site mutation. Functional analysis confirmed its impact on pre-mRNA splicing, resulting in an in-frame deletion (p(Ser367_Asn579del)). Family investigation revealed varying degrees of ophthalmologic impairment in the patient's mother and half-sister, both carrying the same mutation. Conclusions: This case report provides the first clinical description of the c.1101–1 G>T mutation in the BEST1 gene associated with ADVIRC. The presence of intrafamilial variability, as evidenced by the differing clinical features observed in the index case and her half-sister, suggests the potential involvement of mechanisms influencing phenotype expression. Abbreviation: ADVIRC : autosomal dominant vitreoretinochoroidopathy; RNA : ribonucleic acid; RPE : retinal pigment epithelium. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy

Author

Bocquet, Béatrice, El Alami Trebki, Hicham, Roux, Anne Françoise, Labesse, Gilles, Brabet, Philippe, Arndt, Carl, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Hamroun, Dalil, Boulicot-Séguin, Céline, Lequeux, Léopoldine, Picot, Marie Christine, Huguet, Hélèna, Audo, Isabelle, Dhaenens, Claire Marie, Kalatzis, Vasiliki, and Meunier, Isabelle

Published
2021
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12. Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy.

Author

Corradi, Zelia, Dhaenens, Claire-Marie, Grunewald, Olivier, Kocabaş, Ipek Selen, Meunier, Isabelle, Banfi, Sandro, Karali, Marianthi, Cremers, Frans P. M., and Hitti-Malin, Rebekkah J.

Subjects
*DNA copy number variations, *MOLECULAR probes, *IDENTIFICATION, *RETINAL diseases, *GENETIC disorders, *GENETIC disorder diagnosis, *RECURRENT neural networks
Abstract

ABCA4 is the most frequently mutated gene leading to inherited retinal disease (IRD) with over 2200 pathogenic variants reported to date. Of these, ~1% are copy number variants (CNVs) involving the deletion or duplication of genomic regions, typically >50 nucleotides in length. An in-depth assessment of the current literature based on the public database LOVD, regarding the presence of known CNVs and structural variants in ABCA4, and additional sequencing analysis of ABCA4 using single-molecule Molecular Inversion Probes (smMIPs) for 148 probands highlighted recurrent and novel CNVs associated with ABCA4-associated retinopathies. An analysis of the coverage depth in the sequencing data led to the identification of eleven deletions (six novel and five recurrent), three duplications (one novel and two recurrent) and one complex CNV. Of particular interest was the identification of a complex defect, i.e., a 15.3 kb duplicated segment encompassing exon 31 through intron 41 that was inserted at the junction of a downstream 2.7 kb deletion encompassing intron 44 through intron 47. In addition, we identified a 7.0 kb tandem duplication of intron 1 in three cases. The identification of CNVs in ABCA4 can provide patients and their families with a genetic diagnosis whilst expanding our understanding of the complexity of diseases caused by ABCA4 variants. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Myotonic Dystrophy: an RNA Toxic Gain of Function Tauopathy?

Author

Fernandez-Gomez, Francisco, Tran, Helene, Dhaenens, Claire-Marie, Caillet-Boudin, Marie-Laure, Schraen-Maschke, Susanna, Blum, David, Sablonnière, Bernard, Buée-Scherrer, Valérie, Buee, Luc, Sergeant, Nicolas, Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Takashima, Akihiko, editor, Wolozin, Benjamin, editor, and Buee, Luc, editor

Published
2019
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14. Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

Author

Cornelis, Stéphanie S., primary, Bauwens, Miriam, additional, Haer-Wigman, Lonneke, additional, De Bruyne, Marieke, additional, Pantrangi, Madhulatha, additional, De Baere, Elfride, additional, Hufnagel, Robert B., additional, Dhaenens, Claire-Marie, additional, and Cremers, Frans P. M., additional

Published
2023
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15. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, and Cremers, Frans P. M.

Published
2020
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16. Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Author

Cornelis, Stéphanie S., IntHout, Joanna, Runhart, Esmee H., Grunewald, Olivier, Lin, Siying, Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah J., Whelan, Laura, Farrar, G. Jane, Sharon, Dror, van den Born, L. Ingeborgh, Arno, Gavin, Simcoe, Mark, Michaelides, Michel, Webster, Andrew R., Roosing, Susanne, Mahroo, Omar A., Dhaenens, Claire-Marie, and Cremers, Frans P. M.

Published
2024
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17. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Author

Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., and Cremers, Frans P. M.

Published
2019
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21. Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

Author

Geada, Sara, primary, Teixeira-Marques, Francisco, additional, Teixeira, Bruno, additional, Carvalho, Ana Luísa, additional, Lousan, Nuno, additional, Saraiva, Jorge, additional, Murta, Joaquim, additional, Silva, Rufino, additional, Zanlonghi, Xavier, additional, Defoort-Dhellemmes, Sabine, additional, Smirnov, Vasily, additional, Dhaenens, Claire-Marie, additional, Blanchet, Catherine, additional, Meunier, Isabelle, additional, and Marques, João Pedro, additional

Published
2023
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22. Validation of Nanopore long-read sequencing to resolve RPGRORF15 genotypes in individuals with X-linked retinitis pigmentosa

Author

Vaché, Christel, Faugère, Valérie, Baux, David, Mansard, Luke, Van Goethem, Charles, Dhaenens, Claire-Marie, Grunewald, Olivier, Audo, Isabelle, Zeitz, Christina, Meunier, Isabelle, Bocquet, Béatrice, Cossée, Mireille, Bergougnoux, Anne, Kalatzis, Vasiliki, and Roux, Anne-Françoise

Abstract

X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in carrier females. Pathogenic alterations of the retinitis pigmentosa GTPase regulator gene (RPGR) are responsible for over 70% of XLRP cases. In the retina, the RPGRORF15transcript includes a terminal exon, called ORF15, that is altered in the large majority of RPGR-XLRP cases. Unfortunately, due to its highly repetitive sequence, ORF15 represents a considerable challenge in terms of sequencing for molecular diagnostic laboratories. However, in a recent preliminary work Yahya et al. reported a long-read sequencing approach seeming promising. Here, the aim of the study was to validate and integrate this new sequencing strategy in a routine screening workflow. For that purpose, we performed a masked test on 52 genomic DNA samples from male and female individuals carrying 32 different pathogenic ORF15 variations including 20 located in the highly repetitive region of the exon. For the latter, we have obtained a detection rate of 80-85% in males and 60-80% in females after bioinformatic analyses. These numbers raised to 100% for both status after adding a complementary visual inspection of ORF15 long-reads. In accordance with these results, and considering the frequency of ORF15 pathogenic variations in XLRP, we suggest that a long-read screening of ORF15 should be systematically considered before any other sequencing approach in subjects with a diagnosis compatible with XLRP.

Published
2024
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24. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

Author

Manes, Gaël, Guillaumie, Tremeur, Vos, Werner L., Devos, Aurore, Audo, Isabelle, Zeitz, Christina, Marquette, Virginie, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Puech, Bernard, Said, Saddek Mohand, Sahel, José Alain, Odent, Sylvie, Dollfus, Hélène, Kaplan, Josseline, Dufier, Jean-Louis, Le Meur, Guylène, Weber, Michel, Faivre, Laurence, Cohen, Francine Behar, Béroud, Christophe, Picot, Marie-Christine, Verdier, Coralie, Sénéchal, Audrey, Baudoin, Corinne, Bocquet, Béatrice, Findlay, John B., Meunier, Isabelle, Dhaenens, Claire-Marie, and Hamel, Christian P.

Published
2015
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25. ROSAH syndrome mimicking chronic uveitis

Author

Fardeau, Christine, primary, Alafaleq, Munirah, additional, Dhaenens, Claire‐Marie, additional, Dollfus, Hélène, additional, Koné‐Paut, Isabelle, additional, Grunewald, Olivier, additional, Morel, Jean‐Baptiste, additional, Titah, Cherif, additional, Saadoun, David, additional, Lazeran, Patrice Olivier, additional, and Meunier, Isabelle, additional

Published
2022
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26. A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

Author

Dessein, Anne-Frédérique, primary, Hebbar, Eléonore, additional, Vamecq, Joseph, additional, Lebredonchel, Elodie, additional, Devos, Aurore, additional, Ghoumid, Jamal, additional, Mention, Karine, additional, Dobbelaere, Dries, additional, Chevalier-Curt, Marie Joncquel, additional, Fontaine, Monique, additional, Defoort, Sabine, additional, Smirnov, Vassily, additional, Douillard, Claire, additional, and Dhaenens, Claire-Marie, additional

Published
2022
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28. ROSAH syndrome mimicking chronic uveitis.

Author

Fardeau, Christine, Alafaleq, Munirah, Dhaenens, Claire‐Marie, Dollfus, Hélène, Koné‐Paut, Isabelle, Grunewald, Olivier, Morel, Jean‐Baptiste, Titah, Cherif, Saadoun, David, Lazeran, Patrice Olivier, and Meunier, Isabelle

Subjects
DYSTROPHY, NUCLEOTIDE sequencing, GENETIC variation, MISSENSE mutation, MACULAR edema, SUMATRIPTAN, RETINAL degeneration
Abstract

To suggest a unique missense variant candidate based on long‐term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi‐systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, related to a unique missense variant in ALPK1 gene. Observational longitudinal follow‐up study of unrelated families. Clinical analysis of ophthalmological and systemic examinations was performed, followed by genetic analysis, including targeted Next Generation Sequencing (NGS) and Whole‐Genome Sequencing (WGS). The ophthalmological phenotype showed extensive optic nerve swelling associated with early macular oedema and vascular leakage. The main associated systemic manifestations were recurrent fever, splenomegaly, anhidrosis, mild cytopenia, anicocytosis and hypersegmented polynuclear cells. WGS, shortened in the second family by the gene candidate suggestion, revealed in all patients the heterozygous missense variant c.710C>T; p.(Thr237Met) in ALPK1. The primary morbidity in ROSAH syndrome in this cohort appeared ophthalmological. Comprehensive, detailed phenotype changes aided by the advancement in genetic testing could allow an early genetic diagnosis of ROSAH syndrome and targeted treatment. The unique missense variant may be suggested as a target of gene correction therapy. [ABSTRACT FROM AUTHOR]

Published
2023
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29. ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Author

Corradi, Zelia, primary, Salameh, Manar, additional, Khan, Mubeen, additional, Héon, Elise, additional, Mishra, Ketan, additional, Hitti-Malin, Rebekkah J., additional, AlSwaiti, Yahya, additional, Aslanian, Alice, additional, Banin, Eyal, additional, Brooks, Brian P., additional, Zein, Wadih M., additional, Hufnagel, Robert B., additional, Roosing, Susanne, additional, Dhaenens, Claire‐Marie, additional, Sharon, Dror, additional, Cremers, Frans P. M., additional, and AlTalbishi, Alaa, additional

Published
2022
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30. Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

Author

Poncet, Anaïs F., primary, Grunewald, Olivier, additional, Vaclavik, Veronika, additional, Meunier, Isabelle, additional, Drumare, Isabelle, additional, Pelletier, Valérie, additional, Bocquet, Béatrice, additional, Todorova, Margarita G., additional, Le Moing, Anne-Gaëlle, additional, Devos, Aurore, additional, Schorderet, Daniel F., additional, Jobic, Florence, additional, Defoort-Dhellemmes, Sabine, additional, Dollfus, Hélène, additional, Smirnov, Vasily M., additional, and Dhaenens, Claire-Marie, additional

Published
2022
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32. Neuronal ApoE4 stimulates C/EBPβ activation, promoting Alzheimer’s disease pathology in a mouse model

Author

Wang, Zhi-Hao, primary, Xia, Yiyuan, additional, Wu, Zhourui, additional, Kang, Seong Su, additional, Zhang, Ji-chun, additional, Liu, Pai, additional, Liu, Xia, additional, Song, Weihong, additional, Huin, Vincent, additional, Dhaenens, Claire-Marie, additional, Yu, Shan Ping, additional, Wang, Xiao-Chuan, additional, and Ye, Keqiang, additional

Published
2022
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33. Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.

Author

Hitti‐Malin, Rebekkah J., Dhaenens, Claire‐Marie, Panneman, Daan M., Corradi, Zelia, Khan, Mubeen, den Hollander, Anneke I., Farrar, G. Jane, Gilissen, Christian, Hoischen, Alexander, van de Vorst, Maartje, Bults, Femke, Boonen, Erica G. M., Saunders, Patrick, Roosing, Susanne, and Cremers, Frans P. M.

Abstract

Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age‐related MD (AMD) expression. Single molecule Molecular Inversion Probes (smMIPs) have proven effective in sequencing the ABCA4 gene in patients with Stargardt disease to identify associated coding and noncoding variation, however many MD patients still remain genetically unexplained. We hypothesized that the missing heritability of MDs may be revealed by smMIPs‐based sequencing of all MD‐associated genes and risk factors. Using 17,394 smMIPs, we sequenced the coding regions of 105 iMD and AMD‐associated genes and noncoding or regulatory loci, known pseudo‐exons, and the mitochondrial genome in two test cohorts that were previously screened for variants in ABCA4. Following detailed sequencing analysis of 110 probands, a diagnostic yield of 38% was observed. This established an "MD‐smMIPs panel," enabling a genotype‐first approach in a high‐throughput and cost‐effective manner, whilst achieving uniform and high coverage across targets. Further analysis will identify known and novel variants in MD‐associated genes to offer an accurate clinical diagnosis to patients. Furthermore, this will reveal new genetic associations for MD and potential genetic overlaps between iMD and AMD. [ABSTRACT FROM AUTHOR]

Published
2022
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34. Comment les acteurs moléculaires de la pathologie Alzheimer permettent de comprendre la démence ? Quelles conséquences diagnostiques et thérapeutiques ?

Author

Buée, Luc, Blum, David, Bombois, Stéphanie, Buée-Scherrer, Valérie, Caillet-Boudin, Marie-Laure, Colin, Morvane, Deramecourt, Vincent, Dhaenens, Claire-Marie, Galas, Marie-Christine, Hamdane, Malika, Humez, Sandrine, Maurage, Claude-Alain, Pasquier, Florence, Sablonnière, Bernard, Schraen-Maschke, Susanna, and Sergeant, Nicolas

Published
2010
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35. Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

Author

Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin, Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie, Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), CeGaT GmbH, Toxicologie et Génopathies [CHRU Lille], Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Service d'ophtalmologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Service d’Exploration de la Vision et Neuro-ophtalmologie [CHU Lille], Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Ophtalmologie [Rennes], CHU Pontchaillou [Rennes], Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Ophtalmologie [Rennes] = Ophtalmology [Rennes], Institut des Neurosciences de Montpellier (INM), Gestionnaire, HAL Sorbonne Université 5, Service d'Ophtalmologie [CHU Pitié-Salpêtrière], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Adult, Male, DNA Copy Number Variations, Genotype, QH301-705.5, TTLL5 gene, [SDV.GEN] Life Sciences [q-bio]/Genetics, Article, Chromosome Breakpoints, Retinal Dystrophies, Electroretinography, large deletion, Humans, Computer Simulation, Genetic Predisposition to Disease, cone-rod dystrophy, Biology (General), Child, QD1-999, Genetic Association Studies, Aged, [SDV.GEN]Life Sciences [q-bio]/Genetics, novel variants, Eye Diseases, Hereditary, Middle Aged, Chemistry, Phenotype, Mutation, Female, Carrier Proteins, Cone-Rod Dystrophies, early onset severe retinal dystrophy
Abstract

Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5-associated patients might be due to the presence of additional gene defects.

Published
2021

36. CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms

Author

Mairot, Kévin, primary, Smirnov, Vasily, additional, Bocquet, Béatrice, additional, Labesse, Gilles, additional, Arndt, Carl, additional, Defoort-Dhellemmes, Sabine, additional, Zanlonghi, Xavier, additional, Hamroun, Dalil, additional, Denis, Danièle, additional, Picot, Marie-Christine, additional, David, Thierry, additional, Grunewald, Olivier, additional, Pégart, Mako, additional, Huguet, Hélèna, additional, Roux, Anne-Françoise, additional, Kalatzis, Vasiliki, additional, Dhaenens, Claire-Marie, additional, and Meunier, Isabelle, additional

Published
2021
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37. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

Author

Peeters, Manon H. C. A, primary, Khan, Mubeen, additional, Rooijakkers, Anoek A. M. B, additional, Mulders, Timo, additional, Haer‐Wigman, Lonneke, additional, Boon, Camiel J. F., additional, Klaver, Caroline C. W., additional, Born, L. Ingeborgh, additional, Hoyng, Carel B., additional, Cremers, Frans P. M., additional, Hollander, Anneke I., additional, Dhaenens, Claire‐Marie, additional, and Collin, Rob W. J., additional

Published
2021
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39. Genetic risk estimates for offspring of patients with Stargardt disease

Author

Cornelis, Stéphanie S., primary, Runhart, Esmee H., additional, Bauwens, Miriam, additional, Corradi, Zelia, additional, de Baere, Elfride, additional, Roosing, Susanne, additional, Haer-Wigman, Lonneke, additional, Dhaenens, Claire-Marie, additional, Vulto-van Silfhout, Anneke T., additional, and Cremers, Frans P.M., additional

Published
2021
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41. PRPH2 mutation update:In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

Author

Peeters, Manon H.C.A., Khan, Mubeen, Rooijakkers, Anoek A.M.B., Mulders, Timo, Haer-Wigman, Lonneke, Boon, Camiel J.F., Klaver, Caroline C.W., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P.M., den Hollander, Anneke I., Dhaenens, Claire Marie, Collin, Rob W.J., Peeters, Manon H.C.A., Khan, Mubeen, Rooijakkers, Anoek A.M.B., Mulders, Timo, Haer-Wigman, Lonneke, Boon, Camiel J.F., Klaver, Caroline C.W., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P.M., den Hollander, Anneke I., Dhaenens, Claire Marie, and Collin, Rob W.J.

Abstract

Mutations in PRPH2, encoding peripherin-2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 variants that have been discovered over the last decades, we surveyed all published PRPH2 variants up to July 2020, describing 720 index patients that in total carried 245 unique variants. In addition, we identified seven novel PRPH2 variants in eight additional index patients. The pathogenicity of all variants was determined using the ACMG guidelines. With this, 107 variants were classified as pathogenic, 92 as likely pathogenic, one as benign, and two as likely benign. The remaining 50 variants were classified as variants of uncertain significance. Interestingly, of the total 252 PRPH2 variants, more than half (n = 137) were missense variants. All variants were uploaded into the Leiden Open source Variation and ClinVar databases. Our study underscores the need for experimental assays for variants of unknown significance to improve pathogenicity classification, which would allow us to better understand genotype-phenotype correlations, and in the long-term, hopefully also support the development of therapeutic strategies for patients with PRPH2-associated IRD.

Published
2021

43. CNGB1 ‐related rod‐cone dystrophy: A mutation review and update

Author

Nassisi, Marco, primary, Smirnov, Vasily M., additional, Solis Hernandez, Cyntia, additional, Mohand‐Saïd, Saddek, additional, Condroyer, Christel, additional, Antonio, Aline, additional, Kühlewein, Laura, additional, Kempf, Melanie, additional, Kohl, Susanne, additional, Wissinger, Bernd, additional, Nasser, Fadi, additional, Ragi, Sara D., additional, Wang, Nan‐Kai, additional, Sparrow, Janet R., additional, Greenstein, Vivienne C., additional, Michalakis, Stylianos, additional, Mahroo, Omar A., additional, Ba‐Abbad, Rola, additional, Michaelides, Michel, additional, Webster, Andrew R., additional, Degli Esposti, Simona, additional, Saffren, Brooke, additional, Capasso, Jenina, additional, Levin, Alex, additional, Hauswirth, William W., additional, Dhaenens, Claire‐Marie, additional, Defoort‐Dhellemmes, Sabine, additional, Tsang, Stephen H., additional, Zrenner, Eberhart, additional, Sahel, Jose‐Alain, additional, Petersen‐Jones, Simon M., additional, Zeitz, Christina, additional, and Audo, Isabelle, additional

Published
2021
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44. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

Author

Peeters, Manon H.C.A, primary, Khan, Mubeen, additional, Rooijakkers, Anoek A.M.B, additional, Mulders, Timo, additional, Haer-Wigman, Lonneke, additional, Boon, Camiel, additional, Klaver, Caroline, additional, Born, Ingeborgh van den, additional, Hoyng, Carel, additional, Cremers, Frans, additional, denHollander, Anneke, additional, Dhaenens, Claire-Marie, additional, and Collin, Rob, additional

Published
2021
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45. Le gène MAPT est méthylé différentiellement dans le cerveau dans la paralysie supranucléaire progressive

Author

HUIN, Vincent, Deramecourt, Vincent, Caparros-Lefebvre, Dominique, Maurage, Claude-Alain, Duyckaerts, Charles, Kovari, Eniko, Pasquier, Florence, Buée-Scherrer, Valérie, Labreuche, Julien, Behal, Hélène, Buée, Luc, Dhaenens, Claire-Marie, Sablonnière, Bernard, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, and Centre National de la Recherche Scientifique (CNRS)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, MESH: Introns, epigenomic, MESH: Alzheimer Disease / metabolism, ddc:616.89, MESH: Aged, 80 and over, MESH: DNA Methylation, Promoter Regions, Genetic, MESH: CpG Islands, Aged, 80 and over, PSP, MESH: Aged, DNA methylation, MESH: Middle Aged, mapt, Middle Aged, Frontal Lobe, Female, Neurons and Cognition (q-bio.NC), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Occipital Lobe, Supranuclear Palsy, Progressive, epigenetic, tau Proteins, Tissue Banks, MESH: Tissue Banks, MESH: Frontal Lobe / metabolism, MESH: Occipital Lobe / metabolism, Alzheimer Disease, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Promoter Regions, Genetic, Humans, Quantitative Biology - Genomics, Aged, Genomics (q-bio.GN), MESH: Supranuclear Palsy, Progressive / metabolism, promoter, MESH: Humans, Progressive Supranuclear Palsy, tauopathy, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: tau Proteins / metabolism, Introns, MESH: Male, eye diseases, nervous system diseases, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, FOS: Biological sciences, Quantitative Biology - Neurons and Cognition, CpG Islands, microtubule-associated protein tau, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease causing parkinsonian symptoms. Altered DNA methylation of the microtubule-associated protein tau gene correlates with the expression changes in Alzheimer’s disease and Parkinson’s disease brains. However, few studies examine the sequences beyond the constitutive promoter.Objectives: Because activating different microtubule associated protein tau gene control regions via methylation might regulate the differential tau expression constituting the specific signatures of individual tauopathies, we compared methylation of a candidate promoter, intron 0.Methods: We assessed DNA methylation in the brains of patients with different tauopathies (35 Alzheimer’s disease, 10 corticobasal degeneration, and 18 PSP) and 19 controls by intron 0 pyrosequencing. We also evaluated methylation in an independent cohort of 11 PSP cases and 12 controls. Frontal (affected by tau pathology) and occipital (unaffected) cortices were analyzed.Results: In the initial samples, one CpG island site in intron 0 (CpG1) showed significant hypomethylation in PSP-affected frontal cortices when compared with controls (p = 0.022). Such hypomethylation was observed in replicate samples, but not in occipital cortices or other tauopathies. PSP and control samples (combining the initial and replicate samples) remained significantly different after adjustment for potential confounding factors (age, H1/H1 diplotype; p = 0.0005). PSP-affected tissues exhibited microtubule-associated protein tau RNA hyperexpression when compared with controls (p = 0.004), although no correlation with CpG1 methylation was observed.Conclusions: This exploratory study suggests that regions other than the constitutive promoter may be involved in microtubule-associated protein tau gene regulation in tauopathies and that intron 0 hypomethylation may be a specific epigenetic signature of PSP. These preliminary findings require confirmation.

Published
2020

47. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Author

Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, and Paquis-Flucklinger, Véronique

Published
2013
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49. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Author

Olivier, Guillaume, primary, Corton, Marta, additional, Intartaglia, Daniela, additional, Verbakel, Sanne K, additional, Sergouniotis, Panagiotis I, additional, Le Meur, Guylène, additional, Dhaenens, Claire-Marie, additional, Naacke, Hélène, additional, Avila-Fernández, Almudena, additional, Hoyng, Carel B, additional, Klevering, Jeroen, additional, Bocquet, Béatrice, additional, Roubertie, Agathe, additional, Sénéchal, Audrey, additional, Banfi, Sandro, additional, Muller, Agnès, additional, Hamel, Christian L, additional, Black, Graeme C, additional, Conte, Ivan, additional, Roosing, Susanne, additional, Zanlonghi, Xavier, additional, Ayuso, Carmen, additional, Meunier, Isabelle, additional, and Manes, Gaël, additional

Published
2020
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50. Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease

Author

Nassisi, Marco, primary, Mohand-Saïd, Saddek, additional, Andrieu, Camille, additional, Antonio, Aline, additional, Condroyer, Christel, additional, Méjécase, Cécile, additional, Dhaenens, Claire-Marie, additional, Sahel, José-Alain, additional, Zeitz, Christina, additional, and Audo, Isabelle, additional

Published
2019
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