Wang XL, Zou T, Wu YC, Weng YY, Yao Q, Sun WW. Preventing transmission of dyschromatosis universalis hereditaria through preimplantation genetic testing: A case report. World J Clin Cases 2025; 13(31): 110620 [DOI: 10.12998/wjcc.v13.i31.110620]
Corresponding Author of This Article
Wei-Wei Sun, MD, Chief Physician, Department of Obstetrics and Gynecology, West China Second University Hospital, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, No. 20 Section 3, South Renmin Road, Chengdu 610041, Sichuan Province, China. weiweisun@scu.edu.cn
Research Domain of This Article
Obstetrics & Gynecology
Article-Type of This Article
Case Report
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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. See: http://creativecommons.org/licenses/by-nc/4.0/
Nov 6, 2025 (publication date) through Nov 8, 2025
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Journal Information of This Article
Publication Name
World Journal of Clinical Cases
ISSN
2307-8960
Publisher of This Article
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Wang XL, Zou T, Wu YC, Weng YY, Yao Q, Sun WW. Preventing transmission of dyschromatosis universalis hereditaria through preimplantation genetic testing: A case report. World J Clin Cases 2025; 13(31): 110620 [DOI: 10.12998/wjcc.v13.i31.110620]
Xue-Lian Wang, Tong Zou, Yi-Cheng Wu, Qiang Yao, Wei-Wei Sun, Department of Obstetrics and Gynecology, West China Second University Hospital, Chengdu 610041, Sichuan Province, China
Xue-Lian Wang, Tong Zou, Yi-Cheng Wu, Qiang Yao, Wei-Wei Sun, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, Sichuan Province, China
You-Yi Weng, Department of Obstetrics and Gynecology, Sichuan Tianfu New Area People's Hospital, Chengdu 610041, Sichuan Province, China
Author contributions: Sun WW, Yao Q, and Zou T contributed ideas about this case; Wang XL, Zou T, and Wu YC wrote the manuscript; Wang XL, Weng YY, and Yao Q revised the manuscript; Wang XL and Sun WW provide the follow-up care of the patient and the baby. All authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare no conflict of interest for this case report.
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: Wei-Wei Sun, MD, Chief Physician, Department of Obstetrics and Gynecology, West China Second University Hospital, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, No. 20 Section 3, South Renmin Road, Chengdu 610041, Sichuan Province, China. weiweisun@scu.edu.cn
Received: June 11, 2025 Revised: July 10, 2025 Accepted: September 9, 2025 Published online: November 6, 2025 Processing time: 141 Days and 20.6 Hours
Abstract
BACKGROUND
Dyschromatosis universalis hereditaria (DUH) is a rare type of autosomal dominant inheritance disease. It has varying gene mutation sites among different ethnicities. SASH1 and ABCB6 have been identified as the causative genes of this disorder.
CASE SUMMARY
A 30-year-old woman presented with irregular black pigmentation spots to our department. Upon examination, the pigmentations were found to be especially dense on the extremities and the face. She had no family history of inbreeding, nor any previous chemical exposure. Genetic testing confirmed that the disease occurred because the patient has a SASH1 gene mutation. Following the use of assisted reproductive technology and preimplantation genetic testing for monogenic disorders, the patient give birth to a health baby.
CONCLUSION
Using assisted reproductive technology/preimplantation genetic testing for monogenic disorders is an option for DUH patients to reduce the risk of transmitting the pathogenic variant to their offspring.
Core Tip: This case report presents a woman with dyschromatosis universalis hereditaria (DUH) carrying a novel SASH1 variant. By applying preimplantation genetic testing for monogenic disorders (PGT-M) with assisted reproductive technology, an unaffected embryo was selected, leading to the birth of a healthy child. The report highlights PGT-M as a promising approach to reduce DUH transmission, emphasizing the role of genetic counseling and long-term follow-up.
