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A case report of X-linked primary ciliary dyskinesia type 36 caused by a novel de novo splice-site mutation c.227-2A>T in DNAAF6

A case report of X-linked primary ciliary dyskinesia type 36 caused by a novel de novo splice-site mutation c.227-2A>T in DNAAF6

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2600128837
Enrollment
Unknown
Registered
2026-07-27
Start date
2026-07-30
Completion date
Unknown
Last updated
2026-08-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

X-linked primary ciliary dyskinesia

Interventions

Observation group:N/A

Sponsors

Affiliated Qingyuan Hospital, Guangzhou Medical University,Qingyuan People's Hospital;
Lead Sponsor

Eligibility

Sex/Gender
Male
Age
No minimum to 18 Years

Inclusion criteria

Inclusion criteria: 1.Pediatric patients with X-linked primary ciliary dyskinesia type 36 confirmed by clinical and genetic testing; 2.complete medical records and genetic testing results available.

Exclusion criteria

Exclusion criteria: 1.None;

Design outcomes

Primary

MeasureTime frame
Demographic and clinical history;Physical examination and routine laboratory tests;Specialized diagnostic examinations;Genetic data;Treatment and outcomes;—

Countries

China

Contacts

Public ContactHuang Qing

Affiliated Qingyuan Hospital, Guangzhou Medical University,Qingyuan People's Hospital;

12047550@qq.com+86 763 3113743

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Aug 10, 2026