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SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review
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 del...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Baishideng Publishing Group Inc
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316932/ https://www.ncbi.nlm.nih.gov/pubmed/34368330 http://dx.doi.org/10.12998/wjcc.v9.i21.6081 |
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author | Zhu, Yan-Yan Sun, Gui-Lian Yang, Zhi-Liang |
author_facet | Zhu, Yan-Yan Sun, Gui-Lian Yang, Zhi-Liang |
author_sort | Zhu, Yan-Yan |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8316932 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-83169322021-08-05 SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review Zhu, Yan-Yan Sun, Gui-Lian Yang, Zhi-Liang World J Clin Cases Case Report 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. Baishideng Publishing Group Inc 2021-07-26 2021-07-26 /pmc/articles/PMC8316932/ /pubmed/34368330 http://dx.doi.org/10.12998/wjcc.v9.i21.6081 Text en ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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. |
spellingShingle | Case Report Zhu, Yan-Yan Sun, Gui-Lian Yang, Zhi-Liang SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review |
title |
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review |
title_full |
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review |
title_fullStr |
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review |
title_full_unstemmed |
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review |
title_short |
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review |
title_sort | satb2-associated syndrome caused by a novel satb2 mutation in a chinese boy: a case report and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316932/ https://www.ncbi.nlm.nih.gov/pubmed/34368330 http://dx.doi.org/10.12998/wjcc.v9.i21.6081 |
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