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  1. Article ; Online: Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.

    Cherik, Florian / Lepage, Mathis / Remerand, Ganaelle / Francannet, Christine / Delabaere, Amélie / Salaun, Gaëlle / Pebrel-Richard, Céline / Gouas, Laetitia / Vago, Philippe / Tchirkov, Andrei / Goumy, Carole

    European journal of medical genetics

    2021  Volume 64, Issue 9, Page(s) 104287

    Abstract: Background: The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear.: Case presentation: We report two new cases of 860 kb ... ...

    Abstract Background: The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear.
    Case presentation: We report two new cases of 860 kb deletion of 10q26.2 identified by array CGH in a fetus with intrauterine growth retardation and his mother. The deleted region encompassed only four coding genes, DOCK1, INSYN2, NPS and FOX12. The proband had dysmorphic facies characterized by a high forehead, malformed ears, a prominent nose, and retrognathia. He had bilateral club feet, clinodactily and mild psychomotor retardation. His mother had a short stature, microcephaly, a long face with a high forehead and bitemporal narrowing, arched and sparse eyebrows, strabismus, prominent nose and chin, a thin upper lip and large protruding ears, and mild intellectual disability.
    Conclusions: This study presents the smallest 10q26.2 deletion so far identified, which further refines the minimal critical region associated with the 10q26 microdeletion syndrome. It focuses on three genes potentially responsible for the phenotype: DOCK1, which is the major candidate gene, and INSYN2 and NPS, which could be involved in cognitive functions.
    MeSH term(s) Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 10/genetics ; Cognition ; Facies ; Female ; Humans ; Infant ; Learning Disabilities/genetics ; Learning Disabilities/pathology ; Male ; Neuropeptides/genetics ; Phenotype ; rac GTP-Binding Proteins/genetics
    Chemical Substances DOCK1 protein, human ; Neuropeptides ; neuropeptide S, human ; rac GTP-Binding Proteins (EC 3.6.5.2)
    Language English
    Publishing date 2021-07-09
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104287
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: DNA methylation episignature in Gabriele-de Vries syndrome.

    Cherik, Florian / Reilly, Jack / Kerkhof, Jennifer / Levy, Michael / McConkey, Haley / Barat-Houari, Mouna / Butler, Kameryn M / Coubes, Christine / Lee, Jennifer A / Le Guyader, Gwenael / Louie, Raymond J / Patterson, Wesley G / Tedder, Matthew L / Bak, Mads / Hammer, Trine Bjørg / Craigen, William / Démurger, Florence / Dubourg, Christèle / Fradin, Mélanie /
    Franciskovich, Rachel / Frengen, Eirik / Friedman, Jennifer / Palares, Nathalie Ruiz / Iascone, Maria / Misceo, Doriana / Monin, Pauline / Odent, Sylvie / Philippe, Christophe / Rouxel, Flavien / Saletti, Veronica / Strømme, Petter / Thulin, Perla Cassayre / Sadikovic, Bekim / Genevieve, David

    Genetics in medicine : official journal of the American College of Medical Genetics

    2022  Volume 24, Issue 4, Page(s) 905–914

    Abstract: Purpose: Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to better understand ... ...

    Abstract Purpose: Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to better understand the molecular basis of the syndrome, we analyzed clinical data and performed genome-wide DNA methylation analysis of a series of individuals carrying a YY1 variant.
    Methods: Clinical data were collected for 13 individuals not yet reported through an international call for collaboration. DNA was collected for 11 of these individuals and 2 previously reported individuals in an attempt to delineate a specific DNA methylation signature in GADEVS.
    Results: Phenotype in most individuals overlapped with the previously described features. We described 1 individual with atypical phenotype, heterozygous for a missense variant in a domain usually not involved in individuals with YY1 pathogenic missense variations. We also described a specific peripheral blood DNA methylation profile associated with YY1 variants.
    Conclusion: We reported a distinct DNA methylation episignature in GADEVS. We expanded the clinical profile of GADEVS to include thin/sparse hair and cryptorchidism. We also highlighted the utility of DNA methylation episignature analysis for classification of variants of unknown clinical significance.
    MeSH term(s) DNA Methylation/genetics ; Genome ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Neurodevelopmental Disorders/genetics ; Phenotype ; Syndrome
    Language English
    Publishing date 2022-01-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2021.12.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

    Rouxel, Flavien / Relator, Raissa / Kerkhof, Jennifer / McConkey, Haley / Levy, Michael / Dias, Patricia / Barat-Houari, Mouna / Bednarek, Nathalie / Boute, Odile / Chatron, Nicolas / Cherik, Florian / Delahaye-Duriez, Andrée / Doco-Fenzy, Martine / Faivre, Laurence / Gauthier, Lucas W / Heron, Delphine / Hildebrand, Michael S / Lesca, Gaëtan / Lespinasse, James /
    Mazel, Benoit / Menke, Leonie A / Morgan, Angela T / Pinson, Lucile / Quelin, Chloe / Rossi, Massimiliano / Ruiz-Pallares, Nathalie / Tran-Mau-Them, Frederic / Van Kessel, Imke N / Vincent, Marie / Weber, Mathys / Willems, Marjolaine / Leguyader, Gwenael / Sadikovic, Bekim / Genevieve, David

    Genetics in medicine : official journal of the American College of Medical Genetics

    2022  Volume 24, Issue 5, Page(s) 1096–1107

    Abstract: Purpose: Rare genetic variants in CDK13 are responsible for CDK13-related disorder (CDK13-RD), with main clinical features being developmental delay or intellectual disability, facial features, behavioral problems, congenital heart defect, and seizures. ...

    Abstract Purpose: Rare genetic variants in CDK13 are responsible for CDK13-related disorder (CDK13-RD), with main clinical features being developmental delay or intellectual disability, facial features, behavioral problems, congenital heart defect, and seizures. In this paper, we report 18 novel individuals with CDK13-RD and provide characterization of genome-wide DNA methylation.
    Methods: We obtained clinical phenotype and neuropsychological data for 18 and 10 individuals, respectively, and compared this series with the literature. We also compared peripheral blood DNA methylation profiles in individuals with CDK13-RD, controls, and other neurodevelopmental disorders episignatures. Finally, we developed a support vector machine-based classifier distinguishing CDK13-RD and non-CDK13-RD samples.
    Results: We reported health and developmental parameters, clinical data, and neuropsychological profile of individuals with CDK13-RD. Genome-wide differential methylation analysis revealed a global hypomethylated profile in individuals with CDK13-RD in a highly sensitive and specific model that could aid in reclassifying variants of uncertain significance.
    Conclusion: We describe the novel features such as anxiety disorder, cryptorchidism, and disrupted sleep in CDK13-RD. We define a CDK13-RD DNA methylation episignature as a diagnostic tool and a defining functional feature of the evolving clinical presentation of this disorder. We also show overlap of the CDK13 DNA methylation profile in an individual with a functionally and clinically related CCNK-related disorder.
    MeSH term(s) CDC2 Protein Kinase/genetics ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Neurodevelopmental Disorders/genetics ; Phenotype
    Chemical Substances CDC2 Protein Kinase (EC 2.7.11.22) ; CDK13 protein, human (EC 2.7.11.22)
    Language English
    Publishing date 2022-01-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2021.12.016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

    Levy, Michael A / McConkey, Haley / Kerkhof, Jennifer / Barat-Houari, Mouna / Bargiacchi, Sara / Biamino, Elisa / Bralo, María Palomares / Cappuccio, Gerarda / Ciolfi, Andrea / Clarke, Angus / DuPont, Barbara R / Elting, Mariet W / Faivre, Laurence / Fee, Timothy / Fletcher, Robin S / Cherik, Florian / Foroutan, Aidin / Friez, Michael J / Gervasini, Cristina /
    Haghshenas, Sadegheh / Hilton, Benjamin A / Jenkins, Zandra / Kaur, Simranpreet / Lewis, Suzanne / Louie, Raymond J / Maitz, Silvia / Milani, Donatella / Morgan, Angela T / Oegema, Renske / Østergaard, Elsebet / Pallares, Nathalie Ruiz / Piccione, Maria / Pizzi, Simone / Plomp, Astrid S / Poulton, Cathryn / Reilly, Jack / Relator, Raissa / Rius, Rocio / Robertson, Stephen / Rooney, Kathleen / Rousseau, Justine / Santen, Gijs W E / Santos-Simarro, Fernando / Schijns, Josephine / Squeo, Gabriella Maria / St John, Miya / Thauvin-Robinet, Christel / Traficante, Giovanna / van der Sluijs, Pleuntje J / Vergano, Samantha A / Vos, Niels / Walden, Kellie K / Azmanov, Dimitar / Balci, Tugce / Banka, Siddharth / Gecz, Jozef / Henneman, Peter / Lee, Jennifer A / Mannens, Marcel M A M / Roscioli, Tony / Siu, Victoria / Amor, David J / Baynam, Gareth / Bend, Eric G / Boycott, Kym / Brunetti-Pierri, Nicola / Campeau, Philippe M / Christodoulou, John / Dyment, David / Esber, Natacha / Fahrner, Jill A / Fleming, Mark D / Genevieve, David / Kerrnohan, Kristin D / McNeill, Alisdair / Menke, Leonie A / Merla, Giuseppe / Prontera, Paolo / Rockman-Greenberg, Cheryl / Schwartz, Charles / Skinner, Steven A / Stevenson, Roger E / Vitobello, Antonio / Tartaglia, Marco / Alders, Marielle / Tedder, Matthew L / Sadikovic, Bekim

    HGG advances

    2021  Volume 3, Issue 1, Page(s) 100075

    Abstract: Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation ...

    Abstract Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions.
    Language English
    Publishing date 2021-12-03
    Publishing country United States
    Document type Journal Article
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2021.100075
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

    Zawerton, Ash / Mignot, Cyril / Sigafoos, Ashley / Blackburn, Patrick R / Haseeb, Abdul / McWalter, Kirsty / Ichikawa, Shoji / Nava, Caroline / Keren, Boris / Charles, Perrine / Marey, Isabelle / Tabet, Anne-Claude / Levy, Jonathan / Perrin, Laurence / Hartmann, Andreas / Lesca, Gaetan / Schluth-Bolard, Caroline / Monin, Pauline / Dupuis-Girod, Sophie /
    Guillen Sacoto, Maria J / Schnur, Rhonda E / Zhu, Zehua / Poisson, Alice / El Chehadeh, Salima / Alembik, Yves / Bruel, Ange-Line / Lehalle, Daphné / Nambot, Sophie / Moutton, Sébastien / Odent, Sylvie / Jaillard, Sylvie / Dubourg, Christèle / Hilhorst-Hofstee, Yvonne / Barbaro-Dieber, Tina / Ortega, Lucia / Bhoj, Elizabeth J / Masser-Frye, Diane / Bird, Lynne M / Lindstrom, Kristin / Ramsey, Keri M / Narayanan, Vinodh / Fassi, Emily / Willing, Marcia / Cole, Trevor / Salter, Claire G / Akilapa, Rhoda / Vandersteen, Anthony / Canham, Natalie / Rump, Patrick / Gerkes, Erica H / Klein Wassink-Ruiter, Jolien S / Bijlsma, Emilia / Hoffer, Mariëtte J V / Vargas, Marcelo / Wojcik, Antonina / Cherik, Florian / Francannet, Christine / Rosenfeld, Jill A / Machol, Keren / Scott, Daryl A / Bacino, Carlos A / Wang, Xia / Clark, Gary D / Bertoli, Marta / Zwolinski, Simon / Thomas, Rhys H / Akay, Ela / Chang, Richard C / Bressi, Rebekah / Sanchez Russo, Rossana / Srour, Myriam / Russell, Laura / Goyette, Anne-Marie E / Dupuis, Lucie / Mendoza-Londono, Roberto / Karimov, Catherine / Joseph, Maries / Nizon, Mathilde / Cogné, Benjamin / Kuechler, Alma / Piton, Amélie / Klee, Eric W / Lefebvre, Véronique / Clark, Karl J / Depienne, Christel

    Genetics in medicine : official journal of the American College of Medical Genetics

    2019  Volume 22, Issue 3, Page(s) 524–537

    Abstract: Purpose: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in ... ...

    Abstract Purpose: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.
    Methods: Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated.
    Results: Microdeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated.
    Conclusions: This study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.
    MeSH term(s) Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; DNA-Binding Proteins/genetics ; Female ; Genetic Predisposition to Disease ; Haploinsufficiency/genetics ; Humans ; Infant ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Language Development Disorders/diagnosis ; Language Development Disorders/genetics ; Language Development Disorders/pathology ; Male ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology ; Pedigree ; Phenotype ; SOXD Transcription Factors/genetics ; Young Adult
    Chemical Substances DNA-Binding Proteins ; SOX5 protein, human ; SOXD Transcription Factors
    Language English
    Publishing date 2019-10-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-019-0657-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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