Phenotypic features, prevalence of KCNJ11 ‐MODY in Chinese patients with early‐onset diabetes and a literature review
Authors' conclusion
Some rare variants of KCNJ11 might contribute to the development of Chinese EOD, although available evidence has not enough power to support them as cause of KCNJ11-MODY. The clinical features of LOF variants were different from GOF variants in KCNJ11-MODY patients. It is necessary to evaluate the pathogenicity of VUS through function experiments.
Study context
- Population
- Chinese patients with early-onset T2D (EOD)
- Participants
- 679 patients
- Outcome
- Prevalence and phenotypic features of KCNJ11-MODY
Methodological detailsnext-generation sequencing, ACMG guideline-based variant classification
- Next-generation sequencing
- ACMG guideline-based variant classification
Main finding
As reported in the abstract
Predicted deleterious rare KCNJ11 variants (all VUS)
- EOD patients with predicted deleterious rare variants
- 6 (0.88%)
- General Chinese population database
- 53/10,588, 0.50%
- EOD cohort vs general Chinese population database, no significant difference
- p = .268
Observational data: associations, not effects.
Further findings
Literature review: Loss-of-function (LOF) vs gain-of-function (GOF) variants in previously reported KCNJ11-MODY
- Patients carrying LOF variants
- 23.8% (19/80)
- LOF variants
- 9 (32.1%)
- LOF carriers had significantly older age at diagnosis, higher birthweight and higher fasting C-peptide vs GOF
- Many patients carrying VUS were not correctly diagnosed
Original publication
Phenotypic features, prevalence of KCNJ11 ‐MODY in Chinese patients with early‐onset diabetes and a literature review. Clin Endocrinol (Oxf). Published 27 August 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →