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©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Med Genet. Jun 20, 2020; 9(1): 1-11
Published online Jun 20, 2020. doi: 10.5496/wjmg.v9.i1.1
Published online Jun 20, 2020. doi: 10.5496/wjmg.v9.i1.1
Clinical and molecular spectrum of Wiedemann-Steiner syndrome, an emerging member of the chromatinopathy family
Paolo Fontana, Marianna Maioli, Giuseppina Cantalupo, Francesca Scarano, Fortunato Lonardo, Medical Genetics Unit, San Pio Hospital, Benevento 82100, Italy
Francesco Fioravanti Passaretti, Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Napoli 80131, Italy
Author contributions: All authors contributed to the manuscript.
Conflict-of-interest statement: Authors declare no conflict of interests for this article.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Fortunato Lonardo, MD, Chief Doctor, Medical Genetics Unit, San Pio Hospital, Via dell’Angelo, 1, Benevento 82100, Italy. fortunato.lonardo@ao-rummo.it
Received: March 14, 2020
Peer-review started: March 14, 2020
First decision: April 12, 2020
Revised: April 19, 2020
Accepted: May 14, 2020
Article in press: May 14, 2020
Published online: June 20, 2020
Peer-review started: March 14, 2020
First decision: April 12, 2020
Revised: April 19, 2020
Accepted: May 14, 2020
Article in press: May 14, 2020
Published online: June 20, 2020
Core Tip
Core tip: Chromatinopathies are a highly heterogeneous group of syndromic conditions in which the underlying genetic anomaly consists of disruption of one of the components of the epigenetic machinery. Within this group, which contains more than 40 diseases, including Kabuki, Sotos, Kleefstra, Koolen-De-Vries/KANSL1 haploinsufficiency, Rubinstein-Taybi, KAT6B-related syndromes, Smith-Magenis, Rett, Townes-Brock, Bohring-Opitz, ATRX, CHARGE, and Floating-Harbor syndromes, an emerging member is represented by Wiedemann-Steiner syndrome, which has very interesting features.