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Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples

Tuomo Mantere, Kornelia Neveling, Celine Pebrel-Richard, Marion Benoist, Guillaume van der Zande, Ellen Kater-Baats, Imane Baatout, Ronald van Beek, Tony Yammine, Michiel Oorsprong, Daniel Olde-Weghuis, Wed Majdali, Susan Vermeulen, Marc Pauper, Aziza Lebbar, Marian Stevens-Kroef, Damien Sanlaville, Dominique Smeets, Jean Michel Dupont, Alexander Hoischen, Caroline Schluth-Bolard, Laila El Khattabi,

Chromosomal aberrations and structural variations are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics, karyotyping and CNV-microarrays, in spite of the low resolution of the first one and the inability to detect neither balanced SVs nor to provide the genomic localization ... Read more >>

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Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Tania Dery, Nicolas Chatron, Amerh Alqahtani, Michel Pugeat, Marianne Till, Patrick Edery, Damien Sanlaville, Caroline Schluth-Bolard, Marc Nicolino, Gaetan Lesca, Audrey Putoux,

Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy. Three genes, BUB1B, CEP57 and TRIP13, are involved ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(11):104044]

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Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Godelieve Morel, Céline Duhamel, Simon Boussion, Frédéric Frénois, Gaetan Lesca, Nicolas Chatron, Audrey Labalme, Damien Sanlaville, Patrick Edery, Julien Thevenon, Laurence Faivre, Alice Fassier, Olivier Prodhomme, Fabienne Escande, Sylvie Manouvrier, Florence Petit, David Geneviève, Massimiliano Rossi,

PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia, and ... Read more >>

Hum. Mutat. (Human mutation)
[2020, 41(9):1499-1506]

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The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Nicolas Chatron, Giuliana Giannuzzi, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Eleonora Porcu, Tony Yammine, Kevin Uguen, Zohra-Lydia Bellil, Julia Lauer Zillhardt, Arthur Sorlin, Flavie Ader, Alexandra Afenjar, Joris Andrieux, Claire Bardel, Eduardo Calpena, Sandra Chantot-Bastaraud, Patrick Callier, Nora Chelloug, Emilie Chopin, Marie-Pierre Cordier, Christèle Dubourg, Laurence Faivre, Françoise Girard, Solveig Heide, Yvan Herenger, Sylvie Jaillard, Boris Keren, Samantha Knight, James Lespinasse, Laurence Lohmann, Nathalie Marle, Reza Maroofian, Alice Masurel-Paulet, Michèle Mathieu-Dramard, Corinne Metay, Alistair Pagnamenta, Marie-France Portnoï, Fabienne Prieur, Marlène Rio, Jean-Pierre Siffroi, Stéphanie Valence, Jenny Taylor, Andrew Wilkie, Patrick Edery, Alexandre Reymond, Damien Sanlaville, Caroline Schluth-Bolard,

Abstract The rise of pangenomic molecular assays allowed uncovering complex rearrangements named chromoanagenesis that were hypothesized to result from catastrophic shattering events. Constitutional cases have typically been reported individually preventing identification of common features and uncovering the mechanisms at play. We characterized 20 new chromoanagenesis and discovered yet undescribed features. ... Read more >>

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Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

Linda Pons, Isabelle Sabatier, Eudeline Alix, Marie Faoucher, Audrey Labalme, Damien Sanlaville, Gaetan Lesca,

PIGC (OMIM 601730) encodes the PIGC protein, which is part of an enzyme complex involved in the biosynthesis of the glycosylphosphatidylinositol protein anchor. The other proteins in the complex include PIGA, PIGH, PIGQ, PIGY, PIGP and DPM2. Homozygous and compound heterozygous mutations in PIGC have recently been described to cause ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(10):103994]

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez, Sandra Yang, Margot R F Reijnders, Antonie J van Essen, Myriam Oufadem, Magnus D Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton-Smith, Jeffrey W Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K Chung, Victoria Sanders, Joel Charrow, Emily Bryant, John Millichap, Antonio Vitobello, Christel Thauvin, Frederic Tran Mau-Them, Laurence Faivre, Gaetan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine M Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Aly, Anna Lehman, Lorne Clarke, Luitgard Graul-Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozic, Ingvild Aukrust, Ryan Peretz, Robert Stratton, Thomas Smol, Anne Dieux-Coëslier, Joanna Meira, Elizabeth Wohler, Nara Sobreira, Erin M Beaver, Jennifer Heeley, Lauren C Briere, Frances A High, David A Sweetser, Melissa A Walker, Catherine E Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S Kerstjens-Frederikse, Dawn L Earl, Victoria M Siu, Emma Reesor, Tony Yao, Robert A Hegele, Olena M Vaske, Shannon Rego, , Kevin A Shapiro, Brian Wong, Michael J Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O'Donnell-Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Y Tan, John Christodoulou, Susan M White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bole-Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T Cho, Valérie Cormier-Daire, Susanna Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T Gordon,

PURPOSE:Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(7):1215-1226]

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Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

Gabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin, Alexis Arzimanoglou, Maria Paola Valenti Hirsch, Audrey Labalme, Clotilde Boulay, Thomas Simonet, Anne Boland, Jean François Deleuze, Patrick Nitschké, Emmanuelle Ollivier, Damien Sanlaville, Edouard Hirsch, Jamel Chelly, Gaetan Lesca,

OBJECTIVE:Self-limited focal epilepsies of childhood (SFEC) are amongst the best defined and most frequent epilepsy syndromes affecting children with usually normal developmental milestones. They include core syndromes such as Rolandic epilepsy or "Benign" epilepsy with Centro-Temporal Spikes and the benign occipital epilepsies, the early onset Panayiotopoulos syndrome and the late-onset ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2020, 27:104-110]

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A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.

Pauline Monin, Nicolas Reynaud, Nadine Hanna, Sophie Dupuis-Girod, Marianne Till, Pauline Arnaud, Audrey Labalme, Eudeline Alix, Coline Poizat-Amar, Marie Faoucher, Lucie Ravella, Bernard Debost, Jean-François Obadia, Jean-Christophe Zech, Catherine Boileau, Damien Sanlaville, Patrick Edery, Audrey Putoux, Caroline Schluth-Bolard,

In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect, bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a ... Read more >>

Cytogenet. Genome Res. (Cytogenetic and genome research)
[2020, 160(2):72-79]

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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tuysuz, Sandra Roselli, Maryam Najafi, Dilek Uludag Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Gunes, Kaya Bilguvar, Audrey Labalme, Eudeline Alix, Damien Sanlaville, Julitta de Bellescize, Anne-Lise Poulat, , Ali-Reza Moslemi, Holger Lerche, Patrick May, Gaetan Lesca, Sarah Weckhuysen, Homa Tajsharghi,

Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as ... Read more >>

Brain (Brain : a journal of neurology)
[2020, 143(5):1447-1461]

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, , Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christèle Dubourg, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet, Frederic Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel Mannens, Peter Henneman, Raoul C Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M Campeau, Justine Rousseau, Michael A Levy, Lauren Brick, Mariya Kozenko, Tugce B Balci, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gecz, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Michael J Friez, Matt Tedder, Jennifer A Lee, Barbara R DuPont, Roger E Stevenson, Steven A Skinner, Charles E Schwartz, David Genevieve, Bekim Sadikovic,

Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2020, 106(3):356-370]

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Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

Sara Cabet, Gaetan Lesca, Audrey Labalme, Vincent Des Portes, Laurent Guibaud, Damien Sanlaville, Linda Pons,

The EMC1 gene, located on 1p36.13, encodes the subunit 1 of the endoplasmic reticulum-membrane protein complex, a highly conserved and ubiquitous multiprotein transmembrane complex. Pathogenic monoallelic and biallelic variants in EMC1 in humans have been reported only in six families, causing isolated visual impairment or in association with psychomotor retardation ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(6):103897]

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Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Sara Cabet, Audrey Putoux, Annie Buenerd, Lucie Gueneau, Alexandre Reymond, Edwin W H Thia, Angeline H M Lai, Erica M Schindewolf, Damien Sanlaville, Gaetan Lesca, Laurent Guibaud,

Prenat. Diagn. (Prenatal diagnosis)
[2020, 40(2):276-281]

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Growth charts in Kabuki syndrome 1.

Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete, Véra Georgescu, Mario Abaji, Yves Alembick, Eudeline Alix, Jeanne Amiel, Cyril Amouroux, Mouna Barat-Houari, Clarisse Baumann, Adeline Bonnard, Guilaine Boursier, Odile Boute, Lydie Burglen, Tiffany Busa, Marie-Pierre Cordier, Valérie Cormier-Daire, Marie-Ange Delrue, Bérénice Doray, Laurence Faivre, Mélanie Fradin, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Alice Goldenberg, Svetlana Gorokhova, Delphine Héron, Bertrand Isidor, Marie-Line Jacquemont, Aurélia Jacquette, Claire Jeandel, Didier Lacombe, Martine Le Merrer, Kim Hanh Le Quan Sang, Stanislas Lyonnet, Sylvie Manouvrier, Caroline Michot, Anne Moncla, Sébastien Moutton, Sylvie Odent, Anna Pelet, Nicole Philip, Lucile Pinson, Julie Reversat, Joëlle Roume, Elodie Sanchez, Damien Sanlaville, Pierre Sarda, Elise Schaefer, Marianne Till, Isabelle Touitou, Annick Toutain, Marjolaine Willems, Vincent Gatinois, David Geneviève,

Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(3):446-453]

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Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean-Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre-Antoine Rollat-Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau-Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne-Laure Mosca-Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, Caroline Schluth-Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean-François Deleuze, Damien Sanlaville,

BACKGROUND:Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base-pair resolution, but the use of short-read sequencing is limited by repetitive sequences, and long-read approaches are not yet validated for diagnosis. Recently, 10X Genomics proposed Chromium, a technology ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, 8(3):e1114]

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A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Nicolas Chatron, Sara Cabet, Eudeline Alix, Annie Buenerd, Phillip Cox, Laurent Guibaud, Audrey Labalme, Peter Marks, Deborah Osio, Audrey Putoux, Damien Sanlaville, Gaetan Lesca, Alexandre Vasiljevic,

Polymicrogyria is a heterogeneous malformation of cortical development microscopically defined by an excessive folding of the cortical mantle resulting in small gyri with a fused surface. Polymicrogyria is responsible for a wide range of neurological symptoms (e.g. epilepsy, intellectual disability, motor dysfunction). Most cases have a supposed environmental clastic vascular ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(11):3367-3374]

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Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca,

BACKGROUND:The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene. CASE PRESENTATION:The proband was ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):10]

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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva,

We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations found a deletion of ASNS and a missense variant on the other allele detected respectively by array ... Read more >>

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2019, 21:100509]

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A 14q distal chromoanagenesis elucidated by whole genome sequencing.

Flavie Ader, Solveig Heide, Pauline Marzin, Alexandra Afenjar, Flavie Diguet, Sandra Chantot Bastaraud, Pierre-Antoine Rollat-Farnier, Damien Sanlaville, Marie-France Portnoï, Jean-Pierre Siffroi, Caroline Schluth-Bolard,

Chromoanagenesis represents an extreme form of genomic rearrangements involving multiple breaks occurring on a single or multiple chromosomes. It has been recently described in both acquired and rare constitutional genetic disorders. Constitutional chromoanagenesis events could lead to abnormal phenotypes including developmental delay and congenital anomalies, and have also been implicated ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(4):103776]

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Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Amerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion-Francois, Massimiliano Rossi, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca, Marianne Till, Patrick Edery, Damien Sanlaville,

BACKGROUND:Pallister-Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic features, hypopigmented and/or hyperpigmented lesions, and multiple congenital anomalies. PKS is associated with tissue mosaicism, which is difficult to diagnose ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(10):e00939]

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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.

Cédric Le Caignec, Olivier Pichon, Annaig Briand, Benoît de Courtivron, Christian Bonnard, Pierre Lindenbaum, Richard Redon, Caroline Schluth-Bolard, Flavie Diguet, Pierre-Antoine Rollat-Farnier, Marta Sanchez-Castro, Marie-Laure Vuillaume, Damien Sanlaville, Denis Duboule, André Mégarbané, Annick Toutain,

The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations or inversions misregulating HOXD genes are responsible for mesomelic dysplasia of the upper and lower limbs. ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2020, 28(3):324-332]

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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Henri Margot, Guilaine Boursier, Claire Duflos, Elodie Sanchez, Jeanne Amiel, Jean-Christophe Andrau, Stéphanie Arpin, Elise Brischoux-Boucher, Odile Boute, Lydie Burglen, Charlotte Caille, Yline Capri, Patrick Collignon, Solène Conrad, Valérie Cormier-Daire, Geoffroy Delplancq, Klaus Dieterich, Hélène Dollfus, Mélanie Fradin, Laurence Faivre, Helder Fernandes, Christine Francannet, Vincent Gatinois, Marion Gerard, Alice Goldenberg, Jamal Ghoumid, Sarah Grotto, Anne-Marie Guerrot, Agnès Guichet, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Philippe Khau Van Kien, Marine Legendre, K H Le Quan Sang, Bruno Leheup, Stanislas Lyonnet, Virginie Magry, Sylvie Manouvrier, Dominique Martin, Godelieve Morel, Arnold Munnich, Sophie Naudion, Sylvie Odent, Laurence Perrin, Florence Petit, Nicole Philip, Marlène Rio, Julie Robbe, Massimiliano Rossi, Elisabeth Sarrazin, Annick Toutain, Julien Van Gils, Gabriella Vera, Alain Verloes, Sacha Weber, Sandra Whalen, Damien Sanlaville, Didier Lacombe, Nathalie Aladjidi, David Geneviève,

PURPOSE:Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency and severity of the manifestations, we measured the prevalence of immunopathological manifestations as well as genotype-phenotype ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(1):181-188]

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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau, Olivier Pichon, Marine Lebrun, Houda Hamdi-Rozé, Marie-Laure Maurin, Nicolas Gruchy, Marie-Christine Manca-Pellissier, Perrine Malzac, Frédéric Bilan, Marie-Pierre Audrezet, Pascale Saugier-Veber, Anne-Laure Fauret-Amsellem, Chantal Missirian, Paul Kuentz, Gregory Egea, Agnès Guichet, Isabelle Creveaux, Caroline Janel, Ines Harzallah, Renaud Touraine, Carole Goumy, Nicole Joyé, Jacques Puechberty, Emmanuelle Haquet, Sandra Chantot-Bastaraud, Sébastien Schmitt, Philippe Gosset, Bénédicte Duban-Bedu, Bruno Delobel, Philippe Vago, François Vialard, Denise Molina Gomes, Jean-Pierre Siffroi, Jean-Paul Bonnefont, Jean-Michel Dupont, Philippe Jonveaux, Martine Doco-Fenzy, Damien Sanlaville, Cédric Le Caignec,

OBJECTIVE:Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes. The overall risk that such a fetus presents a UPD has been previously estimated to be around ~0.6-0.8%. However, because UPD are rare ... Read more >>

Prenat. Diagn. (Prenatal diagnosis)
[2019, 39(11):986-992]

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Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.

Alonso Cárdenas-de-la-Parra, Sandra Martin-Brevet, Clara Moreau, Borja Rodriguez-Herreros, Vladimir S Fonov, Anne M Maillard, Nicole R Zürcher, , Nouchine Hadjikhani, Jacques S Beckmann, Alexandre Reymond, Bogdan Draganski, Sébastien Jacquemont, D Louis Collins,

Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11.2 copy number variants (breakpoint 4-5) confer high risk for neurodevelopmental disorders ... Read more >>

Neuroimage (NeuroImage)
[2019, 203:116155]

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Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurelie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne-Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke Steensbjerre Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch-Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont, ,

BACKGROUND:The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case-control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdeletion syndrome with considerable phenotypic variability. The literature on this deletion is extensive and confusing, which is a challenge for genetic ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2019, 56(10):701-710]

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Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.

L Allach El Khattabi, S Brun, P Gueguen, N Chatron, E Guichoux, S Schutz, J Nectoux, A Sorlin, M Quere, J Boudjarane, V Tsatsaris, L Mandelbrot, C Schluth-Bolard, J M Dupont, C Rooryck, ,

OBJECTIVE:To validate and evaluate the performance metrics of the high-throughput semiconductor sequencing platform, Ion Proton®, in non-invasive prenatal genetic screening (NIPS) for common fetal aneuploidies in a clinical setting. METHODS:This prospective cohort study included 2505 pregnant women from eight academic genetics laboratories (695 high risk for trisomy 21 (risk ≥ 1/250) ... Read more >>

Ultrasound Obstet Gynecol (Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology)
[2019, 54(2):246-254]

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