Objective To investigate the role of autosomal dominant polycystic kidney disease gene 2(PKD2)in the process of sperm tail assembly.Methods A retrospective analysis of the clinical data of a patient with non-obstructive azoospermia(NOA)carrying a mutation of PKD2 gene was conducted,and his gene mutation was verified by Sanger sequencing.The testicular tissue was stained by HE and immunofluorescence.The localization of PKD2 in human sperm was observed through immunofluorescence staining.Human retinal pigment epithelial(hRPE)cells were used to detect the localization of PKD2 in ciliogenesis.Results A novel heterozygous mutation of c.1571T＞A(P.1524N)in the PKD2 gene was found in the NOA patient with defective sperm tail development.PKD2 was primarily located in the initiation of the sperm flagellum,and it co-localized with Ac-Tubulin and γ-Tubulin,which were vital proteins involved in the assembly and development of the sperm tail.During the ciliogenesis of hRPE cells,PKD2 was primarily located at the basal body of the elongating cilia.Conclusion In this study,we report a novel case of NOA patient with a heterozygous mutation of PKD2.This finding suggests that PKD2 may be involved in the initial assembly of sperm tail,which provides a basis for further investigation into the mechanism of sperm flagellum assembly.The heterozygous mutation of c.1571T＞A(P.1524N)in the PKD2 gene may be a new target for the diagnosis and treatment of azoospermia.
维普
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