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Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility
- Source :
- Acta biochimica et biophysica Sinica. 53(4)
- Publication Year :
- 2020
-
Abstract
- Asthenoteratospermia is an important cause of male infertility. Here, we report two infertile patients with severe asthenoteratospermia accompanied by new genetic abnormality. Whole-exome sequencing and bioinformatics analysis suggested that compound heterozygous mutations in DNAH8 (MIM:603337) may be responsible for multiple morphological abnormalities of the sperm flagella (MMAF). Immunofluorescence assay showed that DNAH8 protein expression was significantly decreased in the sperm tail of the patients, and electron microscopy exhibited an abnormal flagellum ultrastructure, while clinical pregnancy could be achieved by intracytoplasmic sperm injection. Therefore, the compound heterozygous mutations in the DNAH8 gene may be responsible for MMAF.
- Subjects :
- 0301 basic medicine
Adult
Male
medicine.medical_treatment
Biophysics
Flagellum
Biology
Immunofluorescence
Compound heterozygosity
medicine.disease_cause
Biochemistry
Intracytoplasmic sperm injection
Male infertility
Andrology
03 medical and health sciences
0302 clinical medicine
Exome Sequencing
medicine
Humans
Infertility, Male
Mutation
030219 obstetrics & reproductive medicine
medicine.diagnostic_test
Heterozygote advantage
General Medicine
Axonemal Dyneins
medicine.disease
Sperm
030104 developmental biology
Sperm Tail
Subjects
Details
- ISSN :
- 17457270
- Volume :
- 53
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Acta biochimica et biophysica Sinica
- Accession number :
- edsair.doi.dedup.....e463755e438f26890b6ec77469a3f57b