Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Autor: Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Naomi Meeks, Mauricio R. Delgado, Jill A. Rosenfeld, Lynn Pais, Susan M. White, Qingchang Meng, Davut Pehlivan, Pengfei Liu, Marie-Claude Gingras, Michael F. Wangler, Donna M. Muzny, James R. Lupski, Craig D. Kaplan, Richard A. Gibbs

Publikováno v: HGG Advances, Vol 2, Iss 1, Pp 100014- (2021)

Summary: De novo germline variation in POLR2A was recently reported to associate with a neurodevelopmental disorder. We report twelve individuals harboring putatively pathogenic de novo or inherited variants in POLR2A, detail their phenotypes, and ma

Externí odkaz: https://doaj.org/article/469ff01f4ca548e4a1adff79415aecc4

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Autor: Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons

Publikováno v: PLoS Genetics, Vol 14, Iss 5, p e1007386 (2018)

Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models

Externí odkaz: https://doaj.org/article/6656674761bf4aa3a8ca19b088f6189f

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Autor: Rosanna Weksberg, Courtney Kiss, Marta Szybowska, Nina Ekhilevitch, Irina Anselm, David A. Sweetser, Michael Marble, Kristin Lindstrom, Cara Forster, Haley Streff, Renata C. Gallagher, John Pappas, Jessica Nance, Patricia G Wheeler, Melissa A. Walker, Grace Yoon, Carl E. Stafstrom, Weiyi Mu, Mary Kay Koenig, Wei Wang, Jane Juusola, Lauren C. Briere, Eric Muller, Julie S. Cohen, E. Hallie Andrew, Frances A. High, Cheryl Cytrynbaum, Jamie L. Fraser, Joel B. Krier, Hannah Meddaugh, Ali Fatemi, Robert E. Kingston, Kristin W. Barañano, Bridget Ostrem, Maria J. Guillen Sacoto, Ellen Moran, Marvin R. Natowicz, Karin Weiss, Erin Torti, Iva A. Tchasovnikarova, William J. Craigen, Cara Inglese, Andrea Guerin, Matthew J. Elrick, Devon Haynes, Chantal F. Morel, Adam L. Numis

Publikováno v: Am J Hum Genet

MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal mus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fe48c69116fc39c7b9900e63ac29144
https://doi.org/10.1016/j.ajhg.2020.06.013

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

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Autor: Leah J. Smith, Joy Jayaseelan, Mauricio R. Delgado, Ingrid Cristian, Pengfei Liu, Naomi Meeks, James R. Lupski, Jill A. Rosenfeld, Donna M. Muzny, Lynn Pais, Michael M. Khayat, Craig D. Kaplan, Qingchang Meng, Devon Haynes, Susan M. White, Payal Arora, Stephanie DiTroia, Linda Z. Rossetti, Andrea M. Lewis, Marie-Claude Gingras, Davut Pehlivan, Richard A. Gibbs, Michael F. Wangler, Adam W. Hansen

Publikováno v: HGG advances
HGG Advances, Vol 2, Iss 1, Pp 100014-(2021)

Summary: De novo germline variation in POLR2A was recently reported to associate with a neurodevelopmental disorder. We report twelve individuals harboring putatively pathogenic de novo or inherited variants in POLR2A, detail their phenotypes, and ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5c49d126cc672bdc6bd4faf14e9e756
https://doi.org/10.1016/j.xhgg.2020.100014