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: http://creativecommons.org/Licenses/by-nc/4.0/
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. sizhewujiu@163.com
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
Processing time: 127 Days and 2.3 Hours
Abstract
BACKGROUND

Special AT-rich sequence binding protein 2 (SATB2)-associated syndrome (SAS; OMIM 612313) is an autosomal dominant disorder. Alterations in the SATB2 gene have been identified as causative.

CASE SUMMARY

We report a case of a 13-year-old Chinese boy with lifelong global developmental delay, speech and language delay, and intellectual disabilities. He had short stature and irregular dentition, but no other abnormal clinical findings. A de novo heterozygous nonsense point mutation was detected by genetic analysis in exon 6 of SATB2, c.687C>A (p.Y229X) (NCBI reference sequence: NM_001172509.2), and neither of his parents had the mutation. This mutation is the first reported and was evaluated as pathogenic according to the guidelines from the American College of Medical Genetics and Genomics. SAS was diagnosed, and special education performed. Our report of a SAS case in China caused by a SATB2 mutation expanded the genotype options for the disease. 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.

CONCLUSION

Global developmental delays are usually the initial presentations, and the diagnosis was challenging before other presentations occurred. Regular follow-up and genetic analysis can help to diagnose SAS early. Verification for genes affected by SATB2 mutations for heterogeneous manifestations may help to clarify the possible pathogenesis of SAS in the future.

Keywords: Special AT-rich sequence binding protein 2; SATB2-associated syndrome; Global developmental delay; Developmental speech and language delay; Case report

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.