| Study year / DOI | DNAH12 genotypes (HGVS) | Human phenotype / number | Model or assisted reproduction | Caveats |
|---|---|---|---|---|
| **Oud et al., 2021** — [10.1093/humrep/deab099](https://doi.org/10.1093/humrep/deab099); PMID: **34791246** | ARG1: c.5393T>C (p.Phe1798Ser) and c.7438C>T (p.Pro2480Ser) | One Argentinian man among 21 men selected for severe sperm-motility disorders; dysplasia of the fibrous sheath/MMAF, severe asthenoteratozoospermia and no reported primary-ciliary-dyskinesia symptoms (pqac-00000019, pqac-00000020, pqac-00000023) | No DNAH12-specific model or reported ART outcome | DNAH12 was a **candidate gene**, not a confirmed diagnosis: parental DNA was unavailable, phase was undetermined, and similar population frequencies raised the possibility that both variants were in cis (pqac-00000023) |
| **Geng et al., 2024** — [10.1016/j.isci.2024.110366](https://doi.org/10.1016/j.isci.2024.110366) | AY0749: c.9004C>T (p.Arg3002Cys) / c.2448A>G (p.Ile816Met); NJ0278: homozygous c.6229C>T (p.Gln2077Ter); XM0178: c.8293-1G>C / c.4476+5G>A | Three unrelated Chinese men among **1,532 ascertained infertile men (0.2%)**; primary infertility, severe asthenozoospermia, normal concentration/total count, MMAF and abnormal flagellar ultrastructure; no typical PCD symptoms, pulmonary infection or situs inversus (pqac-00000009, pqac-00000044) | Dnah12-knockout males were infertile, with reduced counts, immotile sperm, abnormal heads/flagella and seminiferous-tubule defects. ICSI: AY0749, live birth; NJ0278, clinical pregnancy followed by miscarriage; XM0178, four high-quality blastocysts awaiting transfer (pqac-00000008, pqac-00000031, pqac-00000044) | All five distinct variants were classified as **VUS** in the study. Only one patient’s semen underwent full ultrastructural analysis; authors requested replication in larger cohorts. The 3/1,532 frequency is an ascertainment yield—not population prevalence (pqac-00000006, pqac-00000032) |
| **Zhou et al., 2024** — [10.1186/s12920-024-02005-3](https://doi.org/10.1186/s12920-024-02005-3) | Two candidate DNAH12 genotypes were reported; patient-level HGVS/phase cannot be assigned confidently from the accessible table text | Two candidates among 167 men with primary infertility: M842 had asthenozoospermia; M867 had azoospermia (pqac-00000015, pqac-00000035) | No DNAH12-specific functional model, biopsy or ART outcome in this cohort; public single-cell data localized DNAH12 chiefly to spermatocytes and early spermatids (pqac-00000015, pqac-00000034) | Retrospective, small cohort; parental samples were unavailable, phase was unresolved, and no testicular biopsies were performed. The azoospermia association remains provisional (pqac-00000035) |
| **Yang et al., version of record 27 March 2025** — [10.7554/eLife.100350](https://doi.org/10.7554/eLife.100350) | Familial: homozygous c.944_945del (p.Phe315Ter), c.164A>G (p.Gln55Arg), or c.2560A>G (p.Ile854Val). Sporadic: P9 homozygous c.6229C>T (p.Gln2077Ter); P10 homozygous c.2813T>C (p.Val938Ala); P11 c.2680C>T (p.Arg894Cys) / c.5964-3A>G (pqac-00000013, pqac-00000014, pqac-00000045) | Eleven affected men from three families plus three sporadic cases; semen was measured in only **eight**. All measured men had reduced motility; tested sperm showed abnormal heads and absent, short, coiled, bent or irregular-caliber flagella. Patient axonemes showed central-pair loss, disorganization, missing doublets and impaired inner dynein arms (pqac-00000011, pqac-00000014, pqac-00000045) | Two Dnah12 mutant mouse lines reproduced male infertility, spermiogenic/manchette defects, apoptosis, low counts and immotility. Co-IP/proteomics showed DNAH12-dependent recruitment of DNAH1 and DNALI1 and interactions with radial-spoke-head proteins; mouse ICSI restored two-cell and blastocyst development (pqac-00000010, pqac-00000024, pqac-00000025, pqac-00000029) | Strongest mechanistic evidence, but human numbers remain small and not all affected men had semen phenotyping. No PCD phenotype was observed in humans or mice. Cohort counts cannot estimate prevalence (pqac-00000012, pqac-00000025) |
| **Identifier caution** | DNAH12 is the gene associated with MONDO:0978302; **OMIM 603340 identifies DNAH12 itself** (pqac-00000000, pqac-00000009) | — | — | A separate OMIM phenotype number for “spermatogenic failure 100” was not verified in the retrieved evidence and should not be inferred from gene OMIM **603340**. |


*Table: Human variant, phenotype, model, and reproductive-outcome evidence supporting DNAH12-associated spermatogenic failure. The table preserves study-specific uncertainty and distinguishes ascertainment yield from population prevalence.*