Cargando…

Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251

Asthenospermia is one of the most important causes of male infertility. Among asthenospermia, multiple morphological abnormalities of sperm flagella (MMAF) are relatively rare idiopathic conditions characterized by multiple defects in sperm flagella. Although many studies focusing on the genetic fac...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Jiaxiong, Zhang, Ce, Tang, Hui, Zheng, Aiyan, Li, Hong, Yang, Shenmin, Xiang, Jingjing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787216/
https://www.ncbi.nlm.nih.gov/pubmed/35087568
http://dx.doi.org/10.3389/fgene.2021.783790
_version_ 1784639312483057664
author Wang, Jiaxiong
Zhang, Ce
Tang, Hui
Zheng, Aiyan
Li, Hong
Yang, Shenmin
Xiang, Jingjing
author_facet Wang, Jiaxiong
Zhang, Ce
Tang, Hui
Zheng, Aiyan
Li, Hong
Yang, Shenmin
Xiang, Jingjing
author_sort Wang, Jiaxiong
collection PubMed
description Asthenospermia is one of the most important causes of male infertility. Among asthenospermia, multiple morphological abnormalities of sperm flagella (MMAF) are relatively rare idiopathic conditions characterized by multiple defects in sperm flagella. Although many studies focusing on the genetic factors of MMAF have been conducted, its pathogenesis and treatment effect remain largely unknown. Here, we report a male patient from a nonconsanguineous Chinese family who exhibited a typical MMAF phenotype revealed by morphological analysis. We identified splicing mutations in CFAP251 (c.1192-3C>G), and the mutation was proven to cause exon skipping. In addition, western blotting and immunofluorescence analysis of the spermatozoa from the proband and a control subject revealed a significantly lower expression of CFAP251 protein due to pathogenic mutation. Interestingly, the patient’s mother was a heterozygous carrier for the mutation, but his father was not, and finally, the inheritance pattern was proven to be maternal uniparental disomy. We applied an intracytoplasmic sperm injection and achieved a successful pregnancy. Above all, our findings expand the spectrum of CFAP251 pathogenic mutations and provide more indications for clinical genetic counseling and assisted reproductive treatment for such patients.
format Online
Article
Text
id pubmed-8787216
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-87872162022-01-26 Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251 Wang, Jiaxiong Zhang, Ce Tang, Hui Zheng, Aiyan Li, Hong Yang, Shenmin Xiang, Jingjing Front Genet Genetics Asthenospermia is one of the most important causes of male infertility. Among asthenospermia, multiple morphological abnormalities of sperm flagella (MMAF) are relatively rare idiopathic conditions characterized by multiple defects in sperm flagella. Although many studies focusing on the genetic factors of MMAF have been conducted, its pathogenesis and treatment effect remain largely unknown. Here, we report a male patient from a nonconsanguineous Chinese family who exhibited a typical MMAF phenotype revealed by morphological analysis. We identified splicing mutations in CFAP251 (c.1192-3C>G), and the mutation was proven to cause exon skipping. In addition, western blotting and immunofluorescence analysis of the spermatozoa from the proband and a control subject revealed a significantly lower expression of CFAP251 protein due to pathogenic mutation. Interestingly, the patient’s mother was a heterozygous carrier for the mutation, but his father was not, and finally, the inheritance pattern was proven to be maternal uniparental disomy. We applied an intracytoplasmic sperm injection and achieved a successful pregnancy. Above all, our findings expand the spectrum of CFAP251 pathogenic mutations and provide more indications for clinical genetic counseling and assisted reproductive treatment for such patients. Frontiers Media S.A. 2022-01-11 /pmc/articles/PMC8787216/ /pubmed/35087568 http://dx.doi.org/10.3389/fgene.2021.783790 Text en Copyright © 2022 Wang, Zhang, Tang, Zheng, Li, Yang and Xiang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Wang, Jiaxiong
Zhang, Ce
Tang, Hui
Zheng, Aiyan
Li, Hong
Yang, Shenmin
Xiang, Jingjing
Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251
title Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251
title_full Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251
title_fullStr Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251
title_full_unstemmed Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251
title_short Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251
title_sort successful results of intracytoplasmic sperm injection of a chinese patient with multiple morphological abnormalities of sperm flagella caused by a novel splicing mutation in cfap251
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787216/
https://www.ncbi.nlm.nih.gov/pubmed/35087568
http://dx.doi.org/10.3389/fgene.2021.783790
work_keys_str_mv AT wangjiaxiong successfulresultsofintracytoplasmicsperminjectionofachinesepatientwithmultiplemorphologicalabnormalitiesofspermflagellacausedbyanovelsplicingmutationincfap251
AT zhangce successfulresultsofintracytoplasmicsperminjectionofachinesepatientwithmultiplemorphologicalabnormalitiesofspermflagellacausedbyanovelsplicingmutationincfap251
AT tanghui successfulresultsofintracytoplasmicsperminjectionofachinesepatientwithmultiplemorphologicalabnormalitiesofspermflagellacausedbyanovelsplicingmutationincfap251
AT zhengaiyan successfulresultsofintracytoplasmicsperminjectionofachinesepatientwithmultiplemorphologicalabnormalitiesofspermflagellacausedbyanovelsplicingmutationincfap251
AT lihong successfulresultsofintracytoplasmicsperminjectionofachinesepatientwithmultiplemorphologicalabnormalitiesofspermflagellacausedbyanovelsplicingmutationincfap251
AT yangshenmin successfulresultsofintracytoplasmicsperminjectionofachinesepatientwithmultiplemorphologicalabnormalitiesofspermflagellacausedbyanovelsplicingmutationincfap251
AT xiangjingjing successfulresultsofintracytoplasmicsperminjectionofachinesepatientwithmultiplemorphologicalabnormalitiesofspermflagellacausedbyanovelsplicingmutationincfap251