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Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection
Author(s) -
Liu Gang,
Xing Xiaowei,
Zhang Huan,
Zhu Wenbing,
Lin Ge,
Lu Guangxiu,
Li Weina
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.14007
Subject(s) - intracytoplasmic sperm injection , andrology , biology , exome sequencing , male infertility , human fertilization , sperm , semen , phenotype , pregnancy , embryo , genetics , in vitro fertilisation , infertility , medicine , gene
Acephalic spermatozoa syndrome is a rare form of teratozoospermia characterized by headless spermatozoa. Previous studies have found that variants in SUN5 , PMFBP1 , TSGA10 , BRDT , and SPATC1L are associated with this phenotype. Many researchers have suggested that variants in TSGA10 without a proximal centriole might influence early embryonic development. This retrospective cohort study included 12 infertile men with severe acephalic spermatozoa in China. We identified six heterozygous variants and four homozygous variants in TSGA10 / PMFBP1 in seven patients by whole‐exome sequencing (WES). Acephalic spermatozoa defects due to different genetic variations may affect only spermatozoa morphology but do not reduce the chances of fertilization, affect embryo quality at early stages or impair intracytoplasmic sperm injection (ICSI) outcomes. Patients with TSGA10 / PMFBP1 variations were all expected to have good prognoses with ICSI.