Article
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
American journal of human genetics - 6 Aug 2020
Guillen Sacoto Maria J, Tchasovnikarova Iva A, Torti Erin, Forster Cara, Andrew E Hallie, Anselm Irina, Baranano Kristin W, Briere Lauren C, Cohen Julie S, Craigen William J, Cytrynbaum Cheryl, Ekhilevitch Nina, Elrick Matthew J, Fatemi Ali, Fraser Jamie L, Gallagher Renata C, Guerin Andrea, Haynes Devon, High Frances A, Inglese Cara N, Kiss Courtney, Koenig Mary Kay, Krier Joel, Lindstrom Kristin, Marble Michael, Meddaugh Hannah, Moran Ellen S, Morel Chantal F, Mu Weiyi, Muller Eric A, Nance Jessica, Natowicz Marvin R, Numis Adam L, Ostrem Bridget, Pappas John, Stafstrom Carl E, Streff Haley, Sweetser David A, Szybowska Marta, Walker Melissa A, Wang Wei, Weiss Karin, Weksberg Rosanna, Wheeler Patricia G, Yoon Grace, Kingston Robert E, Juusola Jane
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.