Deng TQ, Xie YL, Pu JB, Xuan J, Li XM. Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report. World J Clin Cases 2022; 10(34): 12761-12767 [PMID: 36579083 DOI: 10.12998/wjcc.v10.i34.12761]
Corresponding Author of This Article
Tian-Qin Deng, PhD, Chief Doctor, Reproductive Medical Center, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, No. 3012 Fuqiang Road, Shenzhen 518028, Guangdong Province, China. tianqin02@163.com
Research Domain of This Article
Andrology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
World J Clin Cases. Dec 6, 2022; 10(34): 12761-12767 Published online Dec 6, 2022. doi: 10.12998/wjcc.v10.i34.12761
Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report
Tian-Qin Deng, Yu-Li Xie, Jiang-Bo Pu, Jiang Xuan, Xue-Mei Li
Tian-Qin Deng, Jiang-Bo Pu, Jiang Xuan, Xue-Mei Li, Reproductive Medical Center, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen 518028, Guangdong Province, China
Yu-Li Xie, Newborn Screening Center, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen 518028, Guangdong Province, China
Author contributions: Xie YL, Pu JB, and Jiang X actively participated in collection and diagnosis of the patient; Deng TQ wrote the manuscript; Li XM revised the manuscript; all authors have read and approved the final manuscript.
Supported byShenzhen Key Medical Discipline Construction Fund, Grant/Award, No. SZXK031.
Informed consent statement: A written informed consent was obtained from the patient for publication of this case report.
Conflict-of-interest statement: All the authors have nothing to disclose.
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: Tian-Qin Deng, PhD, Chief Doctor, Reproductive Medical Center, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, No. 3012 Fuqiang Road, Shenzhen 518028, Guangdong Province, China. tianqin02@163.com
Received: September 11, 2022 Peer-review started: September 11, 2022 First decision: October 13, 2022 Revised: October 20, 2022 Accepted: November 4, 2022 Article in press: November 4, 2022 Published online: December 6, 2022
Abstract
BACKGROUND
Acephalic spermatozoa syndrome (ASS) is an extremely rare form of severe teratozoospermia, where in most of the sperm either appear to lack heads or have disconnected or poorly connected heads and tails.
CASE SUMMARY
We reported the case of a male patient with secondary infertility whose sperm showed typical ASS upon morphological analysis. Whole-exome sequencing was performed on the patient’s peripheral blood, which revealed two heterozygous variants of the PMFBP1 gene: PMFBP1c.414+1G>T (p.?) and PMFBP1c.393del (p.C132Afs*3).
CONCLUSION
It is speculated that the compound homozygous mutation of PMFBP1 may be the cause of ASS. We conducted a literature review in order to provide the basis for genetic counseling and clinical diagnosis of patients with ASS.
Core Tip: Acephalic spermatozoa syndrome (ASS) is an extremely rare form of teratozoospermia. Patients with ASS are often unable to conceive naturally, and intracytoplasmic sperm injection is the main method used for such patients to produce biological offspring. Recent studies have shown that ASS is associated with inherited genetic mutations.
