Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

Autor: Burns W; Greenwood Genetic Center, Greenwood, South Carolina, USA., Bird LM; San Diego - Department of Pediatrics, University of California, San Diego, California, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA., Heron D; Département de Génétique, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Keren B; Département de Génétique, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Ramachandra D; Division of Genetics, Advocate Hope Children's Hospital, Oak Lawn, Illinois, USA., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA., Del Viso F; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., Amudhavalli S; Department of Pediatics, Children's Mercy Hospital, Kansas City, Missouri, USA., Engleman K; Department of Pediatics, Children's Mercy Hospital, Kansas City, Missouri, USA., Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Wierzba J; Department of Pediatric and Internal Medicine Nursing, Medical University of Gdańsk, Poland., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Liptay S; Department of Pediatrics, Kinderklinik München Schwabing, School of Medicine, Technical University of Munich, Munich, Germany., Zadeh N; Genetics Center, Orange, California, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, California, USA., Porrmann J; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany., Fischer A; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany., Gößwein S; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany., McLaughlin HM; Invitae Corporation, San Francisco, California, USA., Telegrafi A; GeneDx, Gaithersburg, Maryland, USA., Langley KG; GeneDx, Gaithersburg, Maryland, USA., Steet R; Greenwood Genetic Center, Greenwood, South Carolina, USA., Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Oct; Vol. 185 (10), pp. 2863-2872. Date of Electronic Publication: 2021 May 29.
DOI: 10.1002/ajmg.a.62359
Abstrakt: The DEAD/DEAH box RNA helicases are a superfamily of proteins involved in the processing and transportation of RNA within the cell. A growing literature supports this family of proteins as contributing to various types of human disorders from neurodevelopmental disorders to syndromes with multiple congenital anomalies. This article presents a cohort of nine unrelated individuals with de novo missense alterations in DDX23 (Dead-Box Helicase 23). The gene is ubiquitously expressed and functions in RNA splicing, maintenance of genome stability, and the sensing of double-stranded RNA. Our cohort of patients, gathered through GeneMatcher, exhibited features including tone abnormalities, global developmental delay, facial dysmorphism, autism spectrum disorder, and seizures. Additionally, there were a variety of other findings in the skeletal, renal, ocular, and cardiac systems. The missense alterations all occurred within a highly conserved RecA-like domain of the protein, and are located within or proximal to the DEAD box sequence. The individuals presented in this article provide evidence of a syndrome related to alterations in DDX23 characterized predominantly by atypical neurodevelopment.
(© 2021 Wiley Periodicals LLC.)
Databáze: MEDLINE
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