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Articles by Benoît Arveiler
Towards routine genetic testing of repeat expansions in neurogenetic diseases using multiplex CRISPR-Cas9-targeted long read sequencing
Abstract Abnormal expansion of nucleotide repeats was first identified 34 years ago as a unique mutational mechanism. It is now linked to numerous neurogenetic disorders, several of which discovered only recently. The identification of these expansions has led to various classifications based on clinical presentation, repeat nature and genomic location (coding or non-coding regions). Precise diagnosis of these conditions relies on molecular testing, currently performed on a gene-by-gene basis.
A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells
Abstract The molecular diagnosis of albinism is hampered by a significant number of genetic variants of unknown significance (VUS) including a majority of missense and in-frame insertion deletion variants. This contributes to the high rate of unresolved genetic diagnosis for this disease. We designed a straightforward test of missense VUS in albinism genes based on functional rescue.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption - Nature Genetics
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Abstract The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 50 snRNA-encoding genes in a French cohort of 23,649 individuals with rare disorders and gathered additional cases through international collaborations.
By Caroline Nava, Benjamin Cogné, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah Stenton, Sonja Neuser, Konrad Platzer, Chloé Angelini, Benoît Arveiler, Tahsin Stefan Barakat, Stéphanie Baulac, Claire Beneteau, Stéphane Bézieau, Samantha J. Bryen, Julien Buratti, Almuth Caliebe, John Christodoulou, Andree Delahaye-Duriez, Anne-Sophie Denommé-Pichon, Christèle Dubourg, Salima El Chehadeh, Laurence Faivre, Mélanie Fradin, Svetlana Gorokhova, Mathilde Gras, John M. Greally, Saurav Guha, Tobias B. Haack, Madeleine Harris, Marc-Phillip Hitz, A. Micheil Innes, Celine Jost, Petra Ketteler, Fabian Kilpert, Florian Kraft, Steven S. Laurie, Louis Lebreton, Gaetan Lesca, Jonathan Levy, Agnes Linglart, Jean-Louis Mandel, Víctor Marín, Henri Margot, Johannes A. Mayr, Vincent Michaud, Matthew J. Osmond, Katrin Õunap, Laurent Pasquier, Sandrine Passemard, Melissa Pauly, Christophe Philippe, Annapurna Poduri, Aurora Pujol, Caroline A. Racine, Francis Ramond, André Reis, Rocio Rius, Diana Rodriguez, Clément Sauvestre, Christopher Schröder, Malte Spielmann, Mark Tarnopolsky, Annick Toutain, Frédéric Tran Mau-Them, Julien Van-Gils, Gabriella Vera, André Verdel, Alain Verloes, Marie Vincent, Wojciech P. Galej, Pierre Marijon, Marlene Rio, Séverine Drunat, Nicolas Chatron, Amélie Piton, Gaël Nicolas, Matias Wagner, Rami Abou Jamra, Anne H. O’Donnell-Luria, Nicola Whiffin, Abhilasha Jakhar, Auriane Cospain, Kevin Lüthy, Agatha Schlüter Martin, Harald Surowy, Yoann Vial
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Nature
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The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism - Nature Communications
Abstract Although rare genetic conditions are mostly caused by DNA sequence alterations that functionally disrupt individual genes, large-scale studies using genome sequencing have started to unmask additional complexity. Understanding how combinations of variants in different genes shape human phenotypes is expected to provide important insights into the clinical and genetic heterogeneity of rare disorders.
ARF1-related disorder: phenotypic and molecular spectrum
Discussion PVNH has been associated with X linked dominant, autosomal recessive and autosomal dominant syndromes.21–25 The phenotypic spectrum of ARF1-related disorder includes ID, microcephaly, PVNH and seizures associated with impaired neuronal migration.
ARF1-related disorder: phenotypic and molecular spectrum
Structural analysis The locations of the 10 missense variants in ARF1 are mostly clustered near the GDP-binding domain (figure 1 and figure 2). The Arg19 residue is located at a key position of the GDP-GTP switch. In the inactive conformation (GDP-bound), the Arg19 sidechain points towards an adjacent helix of ARF1 (via Tyr81), however when ARF1 binds GTP, the sidechain of Arg19 is uncovered by the switch, and binds to ARF1 target (adaptor protein AP-1 complex, gamma-1 subunit, Glu41).
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism - Nature Communications
Abstract Genetic diseases have been historically segregated into rare Mendelian disorders and common complex conditions. Large-scale studies using genome sequencing are eroding this distinction and are gradually unmasking the underlying complexity of human traits. Here, we analysed data from the Genomics England 100,000 Genomes Project and from a cohort of 1313 individuals with albinism aiming to gain insights into the genetic architecture of this archetypal rare disorder.
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