Nature Communications (Oct 2018)
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
- Sharissa L. Latham,
- Nadja Ehmke,
- Patrick Y. A. Reinke,
- Manuel H. Taft,
- Dorothee Eicke,
- Theresia Reindl,
- Werner Stenzel,
- Michael J. Lyons,
- Michael J. Friez,
- Jennifer A. Lee,
- Ramona Hecker,
- Michael C. Frühwald,
- Kerstin Becker,
- Teresa M. Neuhann,
- Denise Horn,
- Evelin Schrock,
- Indra Niehaus,
- Katharina Sarnow,
- Konrad Grützmann,
- Luzie Gawehn,
- Barbara Klink,
- Andreas Rump,
- Christine Chaponnier,
- Constanca Figueiredo,
- Ralf Knöfler,
- Dietmar J. Manstein,
- Nataliya Di Donato
Affiliations
- Sharissa L. Latham
- Institute for Biophysical Chemistry, Hannover Medical School
- Nadja Ehmke
- Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin
- Patrick Y. A. Reinke
- Institute for Biophysical Chemistry, Hannover Medical School
- Manuel H. Taft
- Institute for Biophysical Chemistry, Hannover Medical School
- Dorothee Eicke
- Institute for Transfusion Medicine, Hannover Medical School
- Theresia Reindl
- Institute for Biophysical Chemistry, Hannover Medical School
- Werner Stenzel
- Department of Neuropathology, Charité-Universitätsmedizin Berlin
- Michael J. Lyons
- Greenwood Genetic Center, Greenwood
- Michael J. Friez
- Greenwood Genetic Center, Greenwood
- Jennifer A. Lee
- Greenwood Genetic Center, Greenwood
- Ramona Hecker
- Institute for Clinical Chemistry and Laboratory Medicine, Medical Faculty of TU Dresden
- Michael C. Frühwald
- Swabian Children’s Cancer Center, Children’s Hospital Augsburg
- Kerstin Becker
- Medical Genetics Center
- Teresa M. Neuhann
- Medical Genetics Center
- Denise Horn
- Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin
- Evelin Schrock
- Institute for Clinical Genetics
- Indra Niehaus
- Institute for Clinical Genetics
- Katharina Sarnow
- Institute for Clinical Genetics
- Konrad Grützmann
- Core Unit for Molecular Tumor Diagnostics, National Center for Tumor Diseases Dresden
- Luzie Gawehn
- Institute for Clinical Genetics
- Barbara Klink
- Institute for Clinical Genetics
- Andreas Rump
- Institute for Clinical Genetics
- Christine Chaponnier
- Department of Pathology-Immunology, Faculty of Medicine, University of Geneva
- Constanca Figueiredo
- Institute for Transfusion Medicine, Hannover Medical School
- Ralf Knöfler
- Department of Paediatric Haemostaseology, Medical Faculty of TU Dresden
- Dietmar J. Manstein
- Institute for Biophysical Chemistry, Hannover Medical School
- Nataliya Di Donato
- Institute for Clinical Genetics
- DOI
- https://doi.org/10.1038/s41467-018-06713-0
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 17
Abstract
Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling of the cytoskeleton, leading to impaired platelet maturation.
