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Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report.

ABSTRACT:

Background

Acephalic spermatozoa syndrome (ASS) is an extremely rare form of severe teratozoospermia, where in most of the sperm either appear to lack heads or have disconnected or poorly connected heads and tails.

Case summary

We reported the case of a male patient with secondary infertility whose sperm showed typical ASS upon morphological analysis. Whole-exome sequencing was performed on the patient's peripheral blood, which revealed two heterozygous variants of the PMFBP1 gene: PMFBP1c.414+1G>T (p.?) and PMFBP1c.393del (p.C132Afs*3).

Conclusion

It is speculated that the compound homozygous mutation of PMFBP1 may be the cause of ASS. We conducted a literature review in order to provide the basis for genetic counseling and clinical diagnosis of patients with ASS.

SUBMITTER: Deng TQ

PROVIDER: S-EPMC9791525 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report.

Deng Tian-Qin TQ Xie Yu-Li YL Pu Jiang-Bo JB Xuan Jiang J Li Xue-Mei XM

World journal of clinical cases 20221201 34

<h4>Background</h4>Acephalic spermatozoa syndrome (ASS) is an extremely rare form of severe teratozoospermia, where in most of the sperm either appear to lack heads or have disconnected or poorly connected heads and tails.<h4>Case summary</h4>We reported the case of a male patient with secondary infertility whose sperm showed typical ASS upon morphological analysis. Whole-exome sequencing was performed on the patient's peripheral blood, which revealed two heterozygous variants of the <i>PMFBP1</ ...[more]

PMID: 36579083

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