Ontology highlight
ABSTRACT:
SUBMITTER: Guillen Sacoto MJ
PROVIDER: S-EPMC7413887 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Guillen Sacoto Maria J MJ Tchasovnikarova Iva A IA Torti Erin E Forster Cara C Andrew E Hallie EH Anselm Irina I Baranano Kristin W KW Briere Lauren C LC Cohen Julie S JS Craigen William J WJ Cytrynbaum Cheryl C Ekhilevitch Nina N Elrick Matthew J MJ Fatemi Ali A Fraser Jamie L JL Gallagher Renata C RC Guerin Andrea A Haynes Devon D High Frances A FA Inglese Cara N CN Kiss Courtney C Koenig Mary Kay MK Krier Joel J Lindstrom Kristin K Marble Michael M Meddaugh Hannah H Moran Ellen S ES Morel Chantal F CF Mu Weiyi W Muller Eric A EA Nance Jessica J Natowicz Marvin R MR Numis Adam L AL Ostrem Bridget B Pappas John J Stafstrom Carl E CE Streff Haley H Sweetser David A DA Szybowska Marta M Walker Melissa A MA Wang Wei W Weiss Karin K Weksberg Rosanna R Wheeler Patricia G PG Yoon Grace G Kingston Robert E RE Juusola Jane J
American journal of human genetics 20200720 2
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 muscular atrophy, and the onset of symptoms ranges from infancy to the second decade of life. Here, we present a cohort of 20 individuals referred for exome sequencing who harbor pathogenic variants in the ATPase module of MORC2. Individuals presented w ...[more]