Haplotype analysis reveals a possible founder effect of SDHB gene mutation C166_170delCCTCA in Argentine patients.

SANSÓ, GABRIELA; MATHÓ, CECILIA; VIEITES, ANA; LEVIN, GLORIA; BARONTINI, MARTA

Playa del Carmen

Congreso; XXIV Sociedad Latinoamericana de Endocrinología Pediátrica; 2014

Sociedad Latinoamericana de Endocrinologia Pediatrica

Haplotype analysis reveals a possible founder effect of SDHB gene mutation C166_170delCCTCA in Argentine patients. Introduction: paragangliomas are tumors arising from chromaffin extra-adrenal tissue. Familial paraganglioma associated with SDHB gene mutations (PGL 4) is an inherited syndrome with autosomal dominant inheritance, with incomplete penetrance and frequently malignant. Twenty four families with PGL 4 from different regions of Argentina were included in this study. Thirteen out of 24 families (55%) showed the C166_170delCCTCA deletion of SDHB gene. Have previously determined that the presence of this mutation in our population is significantly higher than in others (p