CaseP7 male, 59yo, Tunisia

CasePresentingHPOs HP:0012207, HP:0012865, HP:0012868, HP:0003251

(reduced sperm motility, sperm head anomaly, sperm tail anomaly, male infertility)

HPOsFreeText Patient's sperm volume: 5mL(lower reference limit: 1.5), sperm concentration: 15.5million/mL(reference: 15), total motility after 1hr: 4%(reference: 40), vitality: 47%(reference:53%), normal spermatozoa: 0%(reference: 4), abnormal acrosome: 95%, abnormal head morphology: 7%, abnormal base: 3%, absent flagella: 30.5%, short flagella: 25%, coiled flagella: 27%, flagella of irregular caliber: 33%, multiple anomalies index: 2.56%.

CaseNotHPOs n/a

CasePreviousTesting Previously screened all patients for DNAH1, CFAP43, and CFAP44 variants. Somatic karyotypes were normal.

Variant NM_144668.5:c.3007_3337del

ClinVar 586974

gnomAD not in gnomAD

CaseAddInfo consanguinity

CasePMIDs 29449551

CaseP6 male, 28yo report, Tunisia

CasePresentingHPOs HP:0012207, HP:0003251

(reduced sperm motility, male infertility)

HPOsFreeText Patient's sperm volume: 3mL(lower reference limit: 1.5), sperm concentration: 7.8million/mL(reference: 15), total motility after 1hr: 5%(reference: 40), normal spermatozoa: 0%(reference: 4).

CaseNotHPOs n/a

CasePreviousTesting Previously screened all patients for DNAH1, CFAP43, and CFAP44 variants. Somatic karyotypes were normal.

Variant NM_144668.5:c.3007_3337del

ClinVar 586974

gnomAD not in gnomAD

CaseAddInfo consanguinity

CasePMIDs 29449551

CaseP5 male, 31yo report, Tunisia

CasePresentingHPOs HP:0012207, HP:0012865, HP:0012868, HP:0003251

(reduced sperm motility, sperm head anomaly, sperm tail anomaly, male infertility)

HPOsFreeText Patient's sperm volume: 3.4mL(lower reference limit: 1.5), sperm concentration: 60million/mL(reference: 15), total motility after 1hr: 5%(reference: 40), vitality: 62%(reference:53%), normal spermatozoa: 0%(reference: 4), abnormal acrosome: 80%, abnormal head morphology: 8%, abnormal base: 2%, absent flagella: 24%, short flagella: 50%, coiled flagella: 8%, flagella of irregular caliber: 68%, multiple anomalies index: 2.5%.

CaseNotHPOs n/a

CasePreviousTesting Previously screened all patients for DNAH1, CFAP43, and CFAP44 variants. Somatic karyotypes were normal.

Variant NM_144668.5:c.3007_3337del

ClinVar 586974

gnomAD not in gnomAD

CaseAddInfo nonconsanguineous

CasePMIDs 29449551

CaseP4 male, 45yo report, Tunisia

CasePresentingHPOs HP:0012207, HP:0012865, HP:0012868, HP:0003251

(reduced sperm motility, sperm head anomaly, sperm tail anomaly, male infertility)

HPOsFreeText Patient's sperm volume: 2.2mL(lower reference limit: 1.5), sperm concentration: 56million/mL(reference: 15), total motility after 1hr: 0%(reference: 40), vitality: 79%(reference:53%), normal spermatozoa: 0%(reference: 4), abnormal acrosome: 78%, abnormal head morphology: 58%, abnormal base: 14%, absent flagella: 50%, short flagella: 32%, coiled flagella: 34%, flagella of irregular caliber: 50%, multiple anomalies index: 3.4%.

CaseNotHPOs n/a

CasePreviousTesting Previously screened all patients for DNAH1, CFAP43, and CFAP44 variants. Somatic karyotypes were normal.

Variant NM_144668.5:c.3007_3337del

ClinVar 586974

gnomAD not in gnomaD

CaseAddInfo consanguinity

CasePMIDs 29449551

CaseP3 male, 51yo report, Tunisia

CasePresentingHPOs HP:0012207, HP:0012865, HP:0012868, HP:0003251

(reduced sperm motility, sperm head anomaly, sperm tail anomaly, male infertility)

HPOsFreeText Patient's sperm volume: 1.7mL(lower reference limit: 1.5), sperm concentration: 56million/mL(reference: 15), total motility after 1hr: 5%(reference: 40), vitality: 73%(reference:53%), normal spermatozoa: 0%(reference: 4), abnormal acrosome: 56%, abnormal head morphology: 20%, abnormal base: 32%, absent flagella: 22%, short flagella: 59%, coiled flagella: 27%, flagella of irregular caliber: 37%, multiple anomalies index: 2.7%.

CaseNotHPOs n/a

CasePreviousTesting Previously screened all patients for DNAH1, CFAP43, and CFAP44 variants. Somatic karyotypes were normal.

Variant NM_144668.5:c.3007_3337del

ClinVar 586974

gnomAD not in gnomAD

CaseAddInfo consanguinity

CasePMIDs 29449551

CaseP2 male, 54yo report, Tunisia

CasePresentingHPOs HP:0012207, HP:0012865, HP:0012868, HP:0003251

(reduced sperm motility, sperm head anomaly, sperm tail anomaly, male infertility)

HPOsFreeText Patient's sperm volume: 1.8mL(lower reference limit: 1.5), sperm concentration: 6million/mL(reference: 15), total motility after 1hr: 1%(reference: 40), vitality: 80%(reference:53%), normal spermatozoa: 0%(reference: 4), abnormal acrosome: 56%, abnormal head morphology: 10%, abnormal base: 2%, absent flagella: 6%, short flagella: 32%, coiled flagella: 17%, flagella of irregular caliber: 68%, multiple anomalies index: 2.3%.

CaseNotHPOs n/a

CasePreviousTesting Previously screened all patients for DNAH1, CFAP43, and CFAP44 variants. Somatic karyotypes were normal.

Variant NM_144668.5:c.3007_3337del

ClinVar 586974

gnomAD n/a

CaseAddInfo consanguinity

CasePMIDs 29449551

Variant NM_144668.5:c.3007_3337del

ClinVar 586974

CaseP1 male, 45yo report, Tunisia

CasePresentingHPOs HP:0012207, HP:0012865, HP:0012868, HP:0003251

(reduced sperm motility, sperm head anomaly, sperm tail anomaly, male infertility)

HPOsFreeText Patient's sperm volume: 4mL(lower reference limit: 1.5), sperm concentration: 11.3 million/mL(reference: 15), total motility after 1hr: 2%(reference: 40), vitality: 53%(reference:53%), normal spermatozoa: 0%(reference: 4), abnormal acrosome: 66%, abnormal head morphology: 42%, abnormal base: 36%, absent flagella: 31%, short flagella: 34%, coiled flagella: 20%, flagella of irregular caliber: 4%, multiple anomalies index: 2.5%.

CaseNotHPOs n/a

CasePreviousTesting Previously screened all patients for DNAH1, CFAP43, and CFAP44 variants. Somatic karyotypes were normal.

Variant NM_144668.5:c.3007_3337del

ClinVar 586974

gnomAD not in gomAD

CaseAddInfo consanguinity

CasePMIDs 29449551

CaseA032-IV-1 male, unknown age, Han Chinese

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

(male infertility, sperm tail anomaly, reduced sperm motility)

HPOsFreeText Table S1: Sperm volume: 1.1mL, sperm concentration: 15.5million/mL, progressive motility: 1.5%, motility: 9.5%, normal spermatozoa: 7.0%, absent flagella: 12.0%, short flagella: 55.0%, coiled flagella: 23.0%, angulation: 1.0%, irregular caliber: 2.0%. Semen volume and sperm concentration were normal to the standards.

CaseNotHPOs n/a

CasePreviousTesting Ejaculation disorder, erectile dysfunction, and orchiatrophy not detected. Chromosomal karyotypes were normal (46; XY) and no deletion detected in the human Y chromosome. In addition, primary ciliary dyskinesia-related symptoms of sinusitis, bronchitis, pneumonia, and otitis media were also excluded.

Variant 1. NM_144668.5:c.415C>T(p.Gln139Ter), 2. NM_144668.5:c.1722del(p.Phe574LeufsTer3)

ClinVar 1. n/a, 2. n/a

CAID 1. CA387002758, 2. CA891834513

gnomAD 1. Maximum population minor allele frequency in gnomAD = 0.00005574 (East Asian); no homozygotes, 2. not in gnomAD

CaseAddInfo phase confirmed in parents, in trans in patient

CasePMIDs n/a

CaseA009-IV-1 male, unknown age, Han Chinese

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

(male infertility, sperm tail anomaly, reduced sperm motility)

HPOsFreeText Table S1: Sperm volume: 2.1mL, sperm concentration: 34.5million/mL, progressive motility: 0.2%, motility: 7.7%, normal spermatozoa: 6.5%, absent flagella: 30.0%, short flagella: 41.5%, coiled flagella: 18.5%, angulation: 2.5%, irregular caliber: 1.0%. Semen volume and sperm concentration were normal to the standards.

CaseNotHPOs n/a

CasePreviousTesting Ejaculation disorder, erectile dysfunction, and orchiatrophy not detected. Chromosomal karyotypes were normal (46; XY) and no deletion detected in the human Y chromosome. In addition, primary ciliary dyskinesia-related symptoms of sinusitis, bronchitis, pneumonia, and otitis media were also excluded.

Variant NM_144668.5:c.799C>T(p.Arg267Ter)

ClinVar n/a

CAID CA6840411

gnomAD Maximum population minor allele frequency in gnomAD = 0.00005903 (East Asian); no homozygotes

CaseAddInfo parents unavailable for testing

CasePMIDs n/a