Abstract：
:Male infertility due to spermatogenesis defects affects millions of men worldwide. However, the genetic etiology of the vast majority remains unclear. Here we describe three men with primary infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) from two unrelated Han Chinese families. We performed whole-exome sequencing (WES) and Sanger sequencing on the proband of family 1, and found that he carried novel compound heterozygous missense mutations in dynein axonemal heavy chain 6 (DNAH6) that resulted in the substitution of a conserved amino acid residue and co-segregated with the MMAF phenotype in this family. Papanicolaou staining and transmission electron microscopy analysis revealed morphological and ultrastructural abnormalities in the sperm flagella in carriers of these genetic variants. Immunostaining experiments showed that DNAH6 was localized in the sperm tail. This is the first report identifying novel recessive mutations in DNAH6 as a cause of MMAF. These findings expand the spectrum of known MMAF mutations and phenotypes and provide information that can be useful for genetic and reproductive counseling of MMAF patients.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Tu C,Nie H,Meng L,Yuan S,He W,Luo A,Li H,Li W,Du J,Lu G,Lin G,Tan YQdoi
10.1038/s41598-019-52436-7subject
Has Abstractpub_date
2019-11-01 00:00:00pages
15864issue
1issn
2045-2322pii
10.1038/s41598-019-52436-7journal_volume
9pub_type
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