Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene
10.3760/cma.j.cn511374-20220323-00199
- VernacularTitle:PMFBP1基因变异所致的无头精子症1例患者的临床特征及遗传学分析
- Author:
Ke FENG
1
;
Yanqing XIA
;
Xiaowei QU
;
Feng WAN
;
Ke YANG
;
Jianing XU
;
Cuilian ZHANG
;
Haibin GUO
Author Information
1. 河南省人民医院生殖中心 郑州大学人民医院 河南大学河南省人民医院 河南省生殖医学工程国际联合实验室，郑州 450003
- Keywords:
PMFBP1 gene;
Variant;
Acephalic spermatozoa syndrome;
Whole exome sequencing;
Male infertility
- From:
Chinese Journal of Medical Genetics
2024;41(6):749-752
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.Methods:A patient who had presented at the Henan Provincial People′s Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:WES revealed that the patient has harbored compound heterozygous variants of the PMFBP1 gene, namely c. 853del (p.Ala285Leufs*24) and c. 1276A>T (p.Lys426X), which were both unreported previously. Sanger sequencing suggested that the c. 853del (p.Ala285Leufs*24) variant has derived from his deceased mother, whilst the c. 1276A>T (p.Lys426X) variant has derived from his father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The compound heterozygous variants of the PMFBP1 gene probably underlay the Acephalic spermatozoa syndrome in this patient. The discovery of the novel variants has also enriched the mutational spectrum of Acephalic spermatozoa syndrome.
