Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 26, 2021; 9(21): 6081-6090
Published online Jul 26, 2021. doi: 10.12998/wjcc.v9.i21.6081
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review
Yan-Yan Zhu, Gui-Lian Sun, Zhi-Liang Yang
Yan-Yan Zhu, Gui-Lian Sun, Zhi-Liang Yang, Department of Pediatrics, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
Author contributions: Zhu YY and Yang ZL were responsible for acquisition of the clinical information and writing up and reviewing the manuscript; Sun GL was responsible for acquisition of the clinical information and reviewing the manuscript; all authors read and approved the final manuscript.
Informed consent statement: Consent was obtained from the patient and his/her relatives for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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:
Corresponding author: Zhi-Liang Yan, MD, PhD, Associate Professor, Department of Pediatrics, The First Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang 110001, Liaoning Province, China.
Received: March 16, 2021
Peer-review started: March 16, 2021
First decision: April 24, 2021
Revised: May 4, 2021
Accepted: May 19, 2021
Article in press: May 19, 2021
Published online: July 26, 2021
Core Tip

Core tip: Our findings contribute to a growing list of special AT-rich sequence binding protein 2 (SATB2) mutations associated with SATB2-associated syndrome, which is a rare autosomal dominant disorder. The diagnosis was quite challenging when only developmental delays occurred without other manifestations. The heterogeneous manifestations can be induced by complicated pathogenic involvements and functions of SATB2 from reviewed literatures: (1) SATB2 haploinsufficiency; (2) The interference of truncated SATB2 protein to wild-type SATB2; and (3) Different numerous genes regulated by SATB2 in brain and skeletal development in different developmental stages. We think our case can help the practitioners to learn more about SATB2-associated syndrome.