Article

Expanding the Genetic Landscape of Acephalic Spermatozoa Syndrome: A Novel CCDC188 Pathogenic Variation with Favorable TESE–ICSI Prognosis

2026-08-01

Abstract excerpt

Objective To improve fertility outcomes of infertility associated CCDC188 variations in humans affected by Acephalic Spermatozoa Syndrome. Design Case report. Subjects A 20-year-old man from a consanguineous family applied to our fertility clinic. Semen analysis revealed 100% acephalic spermatozoa, preventing sperm concentration assessment. Exome-based gene panel analysis identified a novel pathogenic homozygous n...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 38c4f002-8319-57f4-818f-9d638c270461
DOI: 10.1016/j.xfre.2026.08.007

Open publication

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 12 closest

Expanding the Genetic Landscape of Acephalic Spermatozoa Syndrome: A Novel CCDC188 Pathogenic Variation with Favorable TESE–ICSI PrognosisDOI 10.1016/j.xfre.2026.08.007Read

Pathogenic Variants in ACTRT1 Cause Acephalic Spermatozoa SyndromeSemantic proximity Read

Genetic pathogenesis of acephalic spermatozoa syndrome: past, present, and future.Semantic proximity Read

<i>TSGA10</i> is a novel candidate gene associated with acephalic spermatozoaSemantic proximity Read

Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection.Semantic proximity Read

Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review.Semantic proximity Read

Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility.Semantic proximity Read

[Advances in the molecular genetic studies of acephalic spermatozoa syndrome].Semantic proximity Read

Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype-Phenotype Association in Male Infertility.Semantic proximity Read

Loss-of-function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.Semantic proximity Read

Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10.Semantic proximity Read

[Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene].Semantic proximity Read

Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.Semantic proximity Read