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Articles Published Processes
4/9/2025 7:02:47 AM | Browse: 19 | Download: 69
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Received |
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2024-10-25 02:53 |
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Peer-Review Started |
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2024-10-25 02:54 |
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To Make the First Decision |
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Return for Revision |
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2025-01-09 01:56 |
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Revised |
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2025-01-21 17:04 |
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Second Decision |
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2025-03-03 02:44 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2025-03-04 11:52 |
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Articles in Press |
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2025-03-04 11:52 |
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Publication Fee Transferred |
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2025-02-07 08:44 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2025-04-07 02:52 |
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Publish the Manuscript Online |
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2025-04-09 07:02 |
| ISSN |
2307-8960 (online) |
| 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: https://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Xiao Xiao, Ping Wang, He Wang, Han-Bing Xie and Shan-Ling Liu |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Key Research and Development Program of China |
2022YFC2703302 |
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| Corresponding Author |
Shan-Ling Liu, PhD, Professor, Department of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No. 17 Section 3 Renmin South Road, Chengdu 610041, Sichuan Province, China. sunny630@126.com |
| Key Words |
Floating-harbor syndrome; SRCAP gene; Exome sequencing; Prenatal genetic diagnosis; Sanger sequencing; Case report |
| Core Tip |
In conclusion, a de novo heterozygous variant in SRCAP (c.7235delinsGT; p.Thr2412fs) was identified in a Chinese male patient with floating-harbor syndrome (FHS) using ES. This proband exhibited classical clinical features of FHS, including severe short stature, developmental delay, characteristic facial features, and additional malformations. This novel SRCAP variant expands the known variant spectrum in FHS and supports the clinical homogeneity of this disorder. Fortunately, we provided genetic counseling and prenatal genetic diagnosis for this family based on the known variant in the proband. |
| Publish Date |
2025-04-09 07:02 |
| Citation |
<p>Xiao X, Wang P, Wang H, Xie HB, Liu SL. Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family: A case report. <i>World J Clin Cases</i> 2025; 13(20): 102651</p> |
| URL |
https://www.wjgnet.com/2307-8960/full/v13/i20/102651.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v13.i20.102651 |
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