Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency
Authors' conclusion
This study defines the most comprehensive CYP17A1 variant spectrum for complete 17-OHD in China, identifies 6 novel pathogenic variants, and uncovers splicing disruption as an under-recognized mechanism in missense mutations.
Study context
- Participants
- 113 participants
- Outcome
- CYP17A1 variant spectrum and functional validation
Methodological detailsgenetically confirmed cases, Sanger, whole-exome or long-read sequencing, enzyme activity and minigene splicing assays
- Genetically confirmed cases
- Sanger, whole-exome or long-read sequencing
- Enzyme activity and minigene splicing assays
Main finding
As reported in the abstract
Pathogenic CYP17A1 variants identified
50
Novel variants (c.286C>G, c.436+1G>T, c.1241C>T, c.1300C>T, c.1348C>T, c.1433G>T)
6
Founder hotspot c.985_987delinsAA, share of alleles
59.29%
Variants disrupting pre-mRNA splicing in minigene assays (including 2 missense, c.1084C>T and c.1085G>A)
5
Observational data: associations, not effects.
Further findings
Clinical features
- All phenotypic females; median diagnostic age
- 17 years
- Hypertension
- 93.58%
- Hypokalemia
- 74.31%
- Tanner stage I breast development
- 91.26%
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
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