TL;DR
The mutational and phenotypic spectrum of GAS8 expands the mutational and phenotypic spectrum of GAS8 and provides additional clinical evidence relevant to genetic diagnosis, genetic counseling, and assisted reproductive management of male infertility accompanied by PCD-like symptoms.
Genetic, ultrastructural, and heterologous expression evidence supports a deleterious effect of the identified TTC29 variant, thereby expanding the mutational spectrum of TTC29-related infertility and providing further insight into the molecular basis of severe sperm motility disorders.
It is demonstrated that the identified DMRTB1 variant is closely associated with the pathogenesis of NOA, thereby providing valuable genetic evidence for the diagnosis of NOA.
Variants in the CFTR and SFTPC genes may be associated with PCD in children, and this case highlights the importance of early genetic variant testing and ciliary ultrastructural analysis in children with recurrent respiratory tract infections, bronchiectasis, or chronic sinusitis.
INTRODUCTION Primary ciliary dyskinesia (PCD), a disorder of motile ciliary dysfunction causing chronic respiratory infections, may also rarely present with aspects of non-motile ciliary dysfunction, including retinitis, central nervous system malformations, skeletal dysplasia, and sensorineural hearing loss. However,...
This study establishes the first clinical association between CCNA1 mutations and chromatid non-disjunction in human spermatogenesis, highlighting the limitations of current morphology-based diagnostic thresholds and supports cytogenetic and genomic assessment for severe teratozoospermia (especially head abnormalities)...
Introduction: Unexplained male infertility (UMI) refers to a situation where no underlying cause of male infertility is defined during investigations of the couple. Methods: Whole exome sequencing (WES) was performed to identify variants associated with UMI in a consanguineous Iranian family. Results: WES revealed a ra...
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