Whole exome sequencing of paediatric patients with Cogan’s syndrome to identify monogenic mimics
Authors' conclusion
In children presenting with features suggesting CS, genetic screening should be considered before conferring this rare diagnostic label since at least 30% had an alternative monogenic contribution to the phenotype rather than true pCS, with implications for treatment and prognosis.
Study context
- Population
- Paediatric patients with a clinical diagnosis of Cogan's syndrome (pCS)
- Participants
- 10 patients
- Outcome
- Monogenic contribution to the phenotype (Class 4/5 variants)
Methodological detailswhole exome sequencing case series, virtual gene panels for inflammation and sensorineural hearing loss (SNHL), copy number variant analysis (ExomeDepth), phenotype-driven variant prioritization (Exomiser), multi-disciplinary team variant interpretation per American College of Medical Genetics and Genomics guidelines
- Whole exome sequencing case series
- Virtual gene panels for inflammation and SNHL
- Copy number variant analysis (ExomeDepth)
- Phenotype-driven variant prioritization (Exomiser)
- Multi-disciplinary team variant interpretation per American College of Medical Genetics and Genomics guidelines
Main finding
As reported in the abstract
Monogenic contribution to the phenotype based on Class 4/5 variants
3 of 10
30%
De novo NLRP3 p.T915R (CAPS)
1
MYO7A p.K542Qfs*5 (SNHL)
1
Observational data: associations, not effects.
Further findings
Possible monogenic contribution, rare variants of uncertain significance (class 3)
- Further cases with possible monogenic contribution (class 3 variants)
- 2
- ADGRV1 compound heterozygous variants (Usher syndrome)
- 1
- Novel ALPK1 p.H735P (ROSAH syndrome)
- 1
Original publication
Whole exome sequencing of paediatric patients with Cogan’s syndrome to identify monogenic mimics. Rheumatology (Oxford). Published 25 August 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →