Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 16, 2025; 13(20): 102651
Published online Jul 16, 2025. doi: 10.12998/wjcc.v13.i20.102651
Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family: A case report
Xiao Xiao, Ping Wang, He Wang, Han-Bing Xie, Shan-Ling Liu
Xiao Xiao, Ping Wang, He Wang, Han-Bing Xie, Shan-Ling Liu, Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Xiao Xiao, Ping Wang, He Wang, Han-Bing Xie, Shan-Ling Liu, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, Sichuan Province, China
Co-first authors: Xiao Xiao and Ping Wang.
Co-corresponding authors: Han-Bing Xie and Shan-Ling Liu.
Author contributions: Liu SL, Xie HB and Wang H completed the conceptualization; Xiao X and Wang P wrote the first draft and drew the images; Xiao X, Wang P and Xie HB analyzed the data; all authors reviewed the manuscript. Xiao X and Wang P contributed equally to this work as co-first authors. The designation of two co-corresponding authors is justified based on their complementary and indispensable contributions to the conceptualization, execution, and communication of this research. Prof Liu SL secured funding, spearheaded the study design and supervised the final manuscript, while Dr Xie HB led data analysis, interpretation, and refinement of the manuscript. Both authors equally addressed critical revisions during peer review. Dual correspondence ensures equitable recognition of their distinct intellectual leadership and accountability for the work. This approach aligns with institutional guidelines and reflects modern collaborative research practices. Furthermore, it enhances transparency in communication, allowing journals and readers to engage with both experts directly, thereby fostering academic integrity.
Supported by National Key Research and Development Program of China, No. 2022YFC2703302.
Informed consent statement: The family signed written informed consent.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Shan-Ling Liu, PhD, Professor, Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, No. 17 Section 3 Renmin South Road, Chengdu 610041, Sichuan Province, China. sunny630@126.com
Received: October 25, 2024
Revised: January 21, 2025
Accepted: March 4, 2025
Published online: July 16, 2025
Processing time: 166 Days and 22.8 Hours
Abstract
BACKGROUND

Floating-harbor syndrome (FHS) is a rare genetic disorder caused by pathogenic variants in the SRCAP gene. Most individuals with FHS have short stature, delayed speech and language development, and dysmorphic facial features. However, the patients with FHS are not easy to diagnose due to the overlap of clinical phenotypes with other disorders.

CASE SUMMARY

We reported a 10-year-old boy who presented with severe short stature, developmental delay and distinctive facial features. Exome sequencing was provided for the proband and his parents. We identified a novel frameshift variant c.7235delinsGT (p.Thr2412fs) in SRCAP gene, and the variant was further validated by Sanger sequencing. The mother of the proband was referred to us for prenatal consultation during next pregnancy. We performed prenatal genetic diagnosis for the fetus. The result of Sanger sequencing for c.7235delinsGT (p.Thr2412fs) in SRCAP gene showed that the fetus did not carry the variant, so the fetus has been born successfully. The newborn does not show any similar symptom to the proband till one month.

CONCLUSION

This case confirms that the c.7235delinsGT (p.Thr2412fs) variant in the SRCAP gene is associated with FHS and expands the spectrum of SRCAP variants.

Keywords: 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.