DNAAF1 Variants in a Primary Ciliary Dyskinesia Case with Male Infertility

Exome sequencing data from a single clinical case links biallelic DNAAF1 variants to primary ciliary dyskinesia and male infertility. The 11.7 KB dataset, uploaded by Baoqiong Liao to figshare, includes a newly identified missense variant (c.524T>C) and a previously reported nonsense variant (c.1462C>T). Bioinformatic predictions and segregation analysis support the pathogenic potential of these variants, which are implicated in impaired dynein arm assembly and ciliary motility.

Use Cases

• Validate bioinformatic pathogenicity predictions based on identified DNAAF1 missense and nonsense variants.
• Study genotype-phenotype correlations in primary ciliary dyskinesia based on clinical features like situs inversus and reduced sperm motility.
• Investigate the role of dynein axonemal assembly factors in ciliary function based on the described structural perturbation.

Strengths

• Dataset is licensed under CC-BY-4.0, permitting open sharing and adaptation.
• Specific genetic variants (c.524T>C and c.1462C>T) and associated clinical findings are detailed in the description.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data is from a single case study, limiting statistical power and generalizability.

Provenance

Source

figshare

Collection Method

Exome sequencing performed on a clinically diagnosed individual, with bioinformatic analysis and segregation confirmation.

Freshness

Last updated 2026-04-21 04:20:15; freshness should be verified.