Clinical and Molecular Analysis of a ZMYND10 Variant Causing Primary Ciliary Dyskinesia

A 2.3 MB DOCX file authored by Jie He and last updated in May 2026 documents a clinical case study of primary ciliary dyskinesia (PCD). The description details a homozygous splice-site variant in the ZMYND10 gene, its molecular consequences, and associated clinical findings including bronchiectasis and primary infertility. The file is shared under a CC-BY-4.0 license on figshare.

Use Cases

• Study genotype-phenotype correlations in PCD based on the detailed clinical and molecular characterization.
• Analyze the impact of splice-site variants on protein function based on the described frameshift and premature termination codon.
• Investigate dynein arm assembly and axonemal organization based on the immunofluorescence and electron microscopy findings.
• Benchmark genetic diagnostic pipelines for PCD based on the specific ZMYND10 variant and associated test results.

Strengths

• Includes detailed molecular characterization from RT-PCR, cDNA sequencing, and immunofluorescence.
• Provides a specific clinical phenotype description including bronchiectasis, situs inversus, and primary infertility.
• File is 2.3 MB and openly available under a CC-BY-4.0 license.

Limitations

• Row count and column-level documentation are absent; field semantics must be inferred after download.
• The dataset is a single case study document, which may limit statistical power for broader inferences.
• Data freshness should be verified as the last update date is in the future (2026-05-08).

Provenance

Source

figshare

Collection Method

Clinical case study and associated laboratory analyses.

Time Range

null

Freshness

Last updated 2026-05-08 05:40:41

Geography

Describes a Chinese family; specific location is not detailed.