A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.
J Assist Reprod Genet
; 38(4): 949-955, 2021 Apr.
Article
em En
| MEDLINE
| ID: mdl-33484382
ABSTRACT
PURPOSE:
To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome.METHODS:
Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the expression and localization of PMFBP1 in sperm. At the same time, a PMFBP1 mutant was constructed, and the expression level of PMFBP1 protein was further verified by in vitro experiments.RESULTS:
We identified a novel homozygous PMFBP1 missense mutation, c.301A>C (p.T101P), in an infertile male from a consanguineous family. Our results showed that the expression of PMFBP1 mutant protein was decreased obviously in sperm of the patient.CONCLUSION:
Our results showed that the novel homozygous missense mutation of PMFBP1 may be a cause of acephalic spermatozoa syndrome, which provided a basis for genetic counseling for the patient.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Teratozoospermia
/
Infertilidade Masculina
/
Proteínas de Membrana
Tipo de estudo:
Etiology_studies
Limite:
Humans
/
Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article