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. 2023 Oct 13;41(1):109–120. doi: 10.1007/s10815-023-02966-x

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© The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

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Fig. 4 — Ultrastructure of control and patient spermatozoa carrying homozygous missense NPHP4 variant. A Transmission electron microscopy (TEM) analysis of sperm tail (a–c) cross-sections of a sperm flagellum from patient IV:3 shows a 9 + 0 axoneme lacking the CP (red asterisk) in (a) mid piece, (b) principal piece, and (c) end piece. (d–f) Cross-sections of the sperm flagellum from a control individual IV:5. (d) mid piece, (e) principal piece, and (f) end piece. The typical axoneme composed of nine doublets of microtubules (DMTs) organized circularly around a central-pair complex (CPC) of microtubules (9 + 2). This axoneme is composed of (7) outer dense fibers (ODFs) and fibrous sheath [18] containing (2) longitudinal columns (LCs) attached by circumferential ribs (CRs). Scale bars represent 200 nm [66]. B The number of abnormal cross-sections in patient IV:3 and control individual IV:5. C Number of cross-sections of mid piece, principal piece and end piece with Absence of central pair