Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation

Autor: Sophie Rondeau, Cécile Masson, Suzanne Chartier, Lucile Boutaud, Catherine Caillaud, Philippe Roth, Clarisse Billon, Férechté Encha-Razavi, Louise Galmiche, Edouard Le Guillou, Yves Ville, Caroline Alby, Christine Bole-Feysot, Anne-Elodie Millischer, Stanislas Lyonnet, Pascale Sonigo, Isabelle Desguerre, Nathalie Boddaert, Charlotte Mechler, Tania Attié-Bitach

Publikováno v: Birth Defects Research. 113:1324-1332

Background Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause of neurodegenerative disor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ccc87a8b6f783edfb0af7b6830a677b
https://doi.org/10.1002/bdr2.1950

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

Autor: Dhanya Yesodharan, Thomas Müller, Andreas R. Janecke, Pauline E. Schneeberger, Sheela Nampoothiri, Kerstin Kutsche, A. S. Knisely, Barbara Plecko, Tess Holling, Malik Alawi

Publikováno v: Brain. 144:3036-3049

Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes are membrane-tethering heterotetramers located at the trans-Golgi network and recycling endosomes, respectively. GARP and EARP share the three subun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e372d49000358b1a13c9caf5e90a6b86
https://doi.org/10.1093/brain/awab206

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

Autor: Federica Graziola, Viola Alesi, Boris Keren, Bruno Dallapiccola, Alexandra Afenjar, Barbara K. Robens, Andrea Superti-Furga, Andrea Guerin, Antonio Novelli, Mathieu Quinodoz, Maria Lisa Dentici, Alessandro Capuano, Valerio Licursi, Sébastien Lebon, Lorena Travaglini, Annapurna Poduri

Publikováno v: Journal of Medical Genetics. 59:262-269

BackgroundNext-generation sequencing, combined with international pooling of cases, has impressively enhanced the discovery of genes responsible for Mendelian neurodevelopmental disorders, particularly in individuals affected by clinically undiagnose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2ee199c905b485968d9948577beab2
https://doi.org/10.1136/jmedgenet-2020-107430

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Autor: Øyvind L. Busk, Kimberley Bradbury, Arjan Bouman, Philippe M. Campeau, Lynne M. Bird, Cornelia Kraus, Colleen Carlston, Rong Mao, Juliette Piard, Laurence Faivre, Amanda Openshaw, Catherine Ward Melver, Mohnish Suri, Christiane Zweier, François Guillemot, Rolph Pfundt, Janice C. Palumbos, Parthiv Haldipur, Jane A. Hurst, Kimberly McDonald, Margaux Serey-Gaut, Luitgard Graul-Neumann, Karen J. Low, Jenny Carmichael, Patrick Ferrerira, Birgit Elisabeth Kristiansen, Ange-Line Bruel, Constance Motter, Andrea Accogli, Darrah N. Haffner, Suhair Hanna, Ruta Marcinkute, Angela Peron, Marcella Zollino, Sofia Maia, James Lespinasse, Claire E. Turner, Sally Ann Lynch, Richard E. Person, Valeria Capra, Kimberly A. Aldinger, Constance Smith-Hicks, Gyri Aasland Gradek, Ingrid M. Wentzensen, Megha Desai, Manuela Morleo, Aditi Shah Parikh, Marcello Scala, Cristina Dias, Gunnar Houge, Telethon Undiagnosed Disease Program, Anne Slavotinek, Roberta Battini, Mary J. Green, Anna Chassevent, Tara Montgomery, David Viskochil, Tatiana Tvrdik, Dawn L. Earl, Karin Weiss, Felice D'Arco, William B. Dobyns, Ping Yee Billie Au, Daniah Beleford, Erica F. Andersen, Bert B.A. de Vries, Jill Clayton-Smith, Christophe Philippe, Michael J. Bamshad

PurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c55e8461adabd1f64e5851c2ad0e0c90
https://doi.org/10.1101/2021.09.06.21262776

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Autor: Dusit Adstamongkonkul, Inger Lise Mero, Morten Buch Engelund, Elena Gardella, Deepali N. Shinde, Felix Boschann, Ingrid Cristian, Irma van de Beek, Johanna C. Acosta Guio, Corinna Stoltenburg, Diana Moskal-Jasińska, Anna C.E. Hurst, Alina T. Midro, Linda Zuurbier, Kristine Lossius, Kevin E. Glinton, Ariel Brautbar, Cyril Mignot, Lindsay B. Henderson, Paul Vos, Carole Brewer, Oliver Puk, Alan Donaldson, Eugeniusz Tarasów, David B. Beck, Julian A. Martinez, Arie van Haeringen, Pawel Stankiewicz, Yline Capri, Amélie Piton, Yaping Yang, Louise Amlie-Wolf, Kevin M. Bowling, Devon Haynes, Saskia Koene, Alberto Gómez, Boris Keren, Margherita Furlan, Karen W. Gripp, Pernille Mathiesen Tørring, Ignacio Briceño, Oskar Schnappauf, Aditi Shah Parikh, Rikke S. Møller, Phillis Lakeman, Beata Stasiewicz-Jarocka, Allan Bayat, Rebecca Signer

Publikováno v: American journal of medical genetics. Part A, 185(5), 1366-1378. Wiley-Liss Inc.
Glinton, K E, Hurst, A C E, Bowling, K M, Cristian, I, Haynes, D, Adstamongkonkul, D, Schnappauf, O, Beck, D B, Brewer, C, Parikh, A S, Shinde, D N, Donaldson, A, Brautbar, A, Koene, S, van Haeringen, A, Piton, A, Capri, Y, Furlan, M, Gardella, E, Møller, R S, van de Beek, I, Zuurbier, L, Lakeman, P, Bayat, A, Martinez, J, Signer, R, Torring, P M, Engelund, M B, Gripp, K W, Amlie-Wolf, L, Henderson, L B, Midro, A T, Tarasów, E, Stasiewicz-Jarocka, B, Moskal-Jasinska, D, Vos, P, Boschann, F, Stoltenburg, C, Puk, O, Mero, I L, Lossius, K, Mignot, C, Keren, B, Acosta Guio, J C, Briceño, I, Gomez, A, Yang, Y & Stankiewicz, P 2021, ' Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ', American Journal of Medical Genetics, Part A, vol. 185, no. 5, pp. 1366-1378 . https://doi.org/10.1002/ajmg.a.62102
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics Part A, 185(5), 1366-1378. WILEY

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc53d0eac22eb766edbe46799471de89
https://pure.amc.nl/en/publications/phenotypic-expansion-of-the-bptfrelated-neurodevelopmental-disorder-with-dysmorphic-facies-and-distal-limb-anomalies(fcb1a7b6-2710-4ff2-9483-39544c6c2d9e).html