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  2. academic.oup.com academic.oup.com
    Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella
    2
    1. ClingenBaseline 21 Oct 2026
      FSIP2_4

      CaseFSIP2_4 male, 43yo report, Tunisian

      CasePresentingHPOs HP:0003251, HP:0012207, HP:0012868

      (male infertility, asthenospermia, sperm tail anomaly)

      HPOsFreeText Sperm volume: 1.7mL, sperm concentration: 49.5 million/mL, total motility: 5h, vitality: 52%, normal spermatozoa: 0%, absent flagella: 6%, short flagella: 70%, coiled flagella: 14%, flagella of irregular caliber: 80%

      CaseNotHPOs n/a

      CasePreviousTesting Previous genetic analysis of DNAH1, CFAP43, and CFAP44 did not end in diagnosis. "Normal somatic karyotypes 46,XY and were negative for Y chromosome microdeletions."

      Variant NM_173651.3(FSIP2):c.16393_16396del (p.Asn5465Glufs)

      ClinVar 586971

      gnomAD not in gnomAD

      CaseAddInfo Consanguineous parents

      CasePMIDs 29449551

      Individual CaseInfo inferred_gene_hgnc:21675 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      FSIP2_4

      CaseFSIP2_4 male, 43yo report, Tunisian

      CasePresentingHPOs HP:0003251, HP:0012207, HP:0012868

      (male infertility, asthenospermia, sperm tail anomaly)

      HPOsFreeText Sperm volume: 1.7mL, sperm concentration: 49.5 million/mL, total motility: 5h, vitality: 52%, normal spermatozoa: 0%, absent flagella: 6%, short flagella: 70%, coiled flagella: 14%, flagella of irregular caliber: 80%

      CaseNotHPOs n/a

      CasePreviousTesting Previous genetic analysis of DNAH1, CFAP43, and CFAP44 did not end in diagnosis. "Normal somatic karyotypes 46,XY and were negative for Y chromosome microdeletions."

      Variant NM_173651.3(FSIP2):c.16393_16396del (p.Asn5465Glufs)

      ClinVar 586971

      gnomAD not in gnomAD

      CaseAddInfo Consanguineous parents

      CasePMIDs 29449551

      Individual CaseInfo inferred_gene_hgnc:21675 inferred_gene_source:RefSeq UNC Biocuration Core
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    academic.oup.com/humrep/article-abstract/33/10/1973/5071833