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DNAH 6 is a novel candidate gene associated with sperm head anomaly
Author(s) -
Li L.,
Sha Y.W.,
Xu X.,
Mei L.B.,
Qiu P.P.,
Ji Z.Y.,
Lin S.B.,
Su Z.Y.,
Wang C.,
Yin C.,
Li P.
Publication year - 2018
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.12953
Subject(s) - beijing , obstetrics and gynaecology , reproductive medicine , medicine , maternity care , family medicine , china , general hospital , gynecology , health care , pregnancy , biology , political science , law , genetics
Summary Globozoospermia and acephalic spermatozoa are two rare sperm head anomalies associated with male infertility. Combination of the two phenotypes in the same patient is extremely rare, so the underlying pathogenesis of this disorder remains unclear. Here, we report a 35‐year‐old infertile male, who presented with 30% of sperm‐lacked heads and 69% of sperm round‐headed or small‐headed with neck thickening in his ejaculate. Subsequent whole‐exome sequencing ( WES ) analysis identified compound heterozygous variants within the DNAH 6 gene. DNAH 6 is a testis‐specific‐expressed protein that was localised to the neck region in the spermatozoa of normal control; however, immunofluorescent staining failed to detect DNAH 6 protein in the patient's spermatozoa. Quantitative real‐time PCR analysis also showed the complete absence of DNAH 6 mRNA in the patient's spermatozoa. Moreover, two cycles of in vitro fertilisation ( IVF )‐assisted reproduction were carried out, but pregnancy was not achieved after embryo transfer. Therefore, rare sequence variants in DNAH 6 might be susceptibility risks for human sperm head anomaly.