A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort
Authors' conclusion
This retrospective study provides genetic data in a wide cohort of 11βOHD, and identifies c.954 + 148C > G as the most recurrent variant in our Caucasian participant recruitment. Screening of deep intronic regions, coupled with functional in vitro tools, must not be overlooked in the strategy to avoid diagnostic failure.
Study context
- Population
- Patients with 11βOHD who underwent CYP11B1 sequencing at a biochemistry and molecular biology department, diagnosed 1990–20244 of 44 carriers excluded
- Participants
- 250 patients
- Exposure
- c.954 + 148C > G carriers vs severe variant carriers
- c.954 + 148C > Gn = 44
- Outcome
- Splicing effect and genotype-phenotype correlation of c.954 + 148C > G
Methodological detailsgenotype-phenotype correlation, in silico and in vitro functional validation (Minigene Reporter Assay)
- Genotype-phenotype correlation
- In silico and in vitro functional validation (Minigene Reporter Assay)
Main finding
As reported in the abstract
- Minigene study: c.954 + 148C > G disrupts splicing by activating a cryptic donor site
- c.954 + 148C > G vs Severe variant: P < 0.034
- c.954 + 148C > G vs Severe variant: P = 0.005
Observational data: associations, not effects.
Original publication
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort. J Clin Endocrinol Metab. Published 19 August 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →