Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma
Authors' conclusion
The germline heterozygous SDHB exon 1 deletion was the most frequent genetic defect in the Brazilian PPGL cohort. Our findings demonstrated a founder effect for the SDHB exon 1 deletion in Brazilian patients with paragangliomas.
Study context
- Population
- Brazilian index patients with pheochromocytoma and paraganglioma (PPGL)
- Participants
- 155 index patients
- Outcome
- Spectrum of SDHB genetic defects
Methodological detailshaplotype analysis, case-control permutation test, deletion breakpoint analysis
- Haplotype analysis
- Case-control permutation test
- Deletion breakpoint analysis
Main finding
As reported in the abstract
SDHB genetic defects
Heterozygous germline SDHB pathogenic or likely pathogenic variants
22 cases
14.2%
SDHB exon 1 complete deletion, most frequent SDHB defect
8 out of 22
36%
Observational data: associations, not effects.
Further findings
Haplotype analysis (founder effect)
- Difference in haplotype frequencies of 5 SDHB flanking microsatellite markers, case-control permutation test
- P = 0.03
- 3 closer/informative microsatellites shared by apparently unrelated exon 1 deletion cases
- 6 out of 8 (75%)
- Same haplotype in chromosomes without SDHB exon 1 deletion
- 1/42; X2 = 29.43; P < 0.001
- All exon 1 deletion cases had the same 15 678 bp deletion breakpoint previously described in the Iberian Peninsula
Original publication
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma. J Clin Endocrinol Metab. Published 18 January 2023. doi:10.
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