Case Report on Novel DNAH11 Variants in a Child with Primary Ciliary Dyskinesia

A 469.6 KB document details a novel compound heterozygous variant in the DNAH11 gene linked to primary ciliary dyskinesia. The case involves a 9-year-old Chinese girl with recurrent respiratory infections and a severely reduced nasal nitric oxide level of 5.4 nL/min. Authored by Shun Wang and shared on figshare in June 2026, this report highlights the importance of copy number variant detection in exome sequencing for PCD diagnosis.

Use Cases

• Identify novel pathogenic variants based on the reported DNAH11 missense mutation and exon duplication.
• Benchmark CNV detection workflows based on the described integration of read-depth analysis with whole-exome sequencing.
• Correlate genotype with clinical phenotype based on the detailed patient presentation including pulmonary function and nNO results.
• Study autosomal recessive inheritance patterns in rare disorders based on the compound heterozygous variant structure.

Strengths

• Includes specific, novel genetic findings: a p.Thr2186Pro missense variant and an unreported exon 30–54 duplication.
• Provides detailed clinical context, including a specific nasal nitric oxide measurement of 5.4 nL/min.
• Released under a permissive CC-BY-4.0 license, facilitating reuse and sharing.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single 469.6 KB case report document, representing a very limited scope.

Provenance

Source

figshare

Collection Method

Clinical case study and genetic analysis.

Freshness

Last updated 2026-06-03 22:01:27; freshness should be verified.

Geography

Patient is described as a Chinese girl.