CaseFSIP2_3 male, 45yo report, Tunisian

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

(male infertility, asthenospermia, sperm tail anomaly)

HPOsFreeText Sperm volume: 3.4mL, sperm concentration: 0.66 million/mL, total motility: 0h, vitality: 30%, normal spermatozoa: 0%, absent flagella: 6%, short flagella: 78%, coiled flagella: 6%, flagella of irregular caliber: 6%

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.1607_1616delAAAGATTGCAinsTGT (p.Lys536Metfs)

ClinVar 586970

gnomAD not in gnomAD

CaseAddInfo Consanguineous parents

CasePMIDs 29449551

CaseFSIP2_2 male, 52yo report, Tunisian

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

(male infertility, asthenospermia, sperm tail anomaly)

HPOsFreeText Sperm volume: 4.7mL, sperm concentration: 1.25 million/mL, total motility: 0h, vitality: 7%, normal spermatozoa: 0%, absent flagella: 16%, short flagella: 50%, coiled flagella: 18%, flagella of irregular caliber: 36%

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.2282dup (p.Asn761Lysfs)

ClinVar 586973

gnomAD not in gnomAD

CaseAddInfo Consanguineous parents

CasePMIDs 29449551

CaseFSIP2_1 male, 44yo report, Tunisian

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

(male infertility, asthenospermia, sperm tail anomaly)

HPOsFreeText Sperm volume: 2.5mL, sperm concentration: 6.7 million/mL, total motility: 1h, vitality: 47%, normal spermatozoa: 0%, absent flagella: 2%, short flagella: 32%, coiled flagella: 26%, flagella of irregular caliber: 57%

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.910del (p.Gln304Lysfs)

ClinVar 586972

gnomAD not in gnomAD

CaseAddInfo Consanguineous parents

CasePMIDs 29449551

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