Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report
Tianqin Deng, Yuli Xie, Jiang-Bo Pu, Xuan Jiang, Xuemei Li
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: c.393del (p.C132Afs*3). CONCLUSION: 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.
Topics & Concepts
Compound heterozygosityMedicineMale infertilityExome sequencingInfertilitySpermMutationSemenGenetic counselingGeneGeneticsAndrologyBiologyPregnancyReproductive Health and TechnologiesSperm and Testicular FunctionSexual Differentiation and Disorders