Session: SAT 596-621-Pediatric Endocrinology /Steroids and Puberty
Poster Board SAT-610
Aim:To determine de cause of the recurrence of GNRHR p.R139H mutation in patients with nIHH, i.e. a common ancestor (“founder” mutation) or hotspot mutation region.
Patients and methods: Haplotype analyses of three polymorphic microsatellite markers D4S409, D4S3018, D4S2387 flanking GNRHRgene was performed in four nIHH Brazilian patients, 2 sporadic and 2 familial cases, and one previously reported Polish family, all of them carrying the p.R139H mutation. Haplotype mapping was also performed in the probands relatives and in a control group composed of 50 individuals with normal pubertal development.
Results: Although these Brazilian patients did not refer to be related, a detailed interview revealed that all of them had ancestors originating from the same region in the Northeast of Brazil (Itabaiana-SE). All the p.R139H affected Brazilian patients presented the same haplotype (294,259,216). In the control population, this haplotype was found in 4% of the subjects. On the other hand, affected Polish family presented with a different haplotype (278,256,217).
Conclusion: These results suggest that the p.R139H mutation has a common ancestor in the Brazilian population. However, the presence of a different haplotype in the Polish patient opens the possibility that R139 could be considered a hotspot mutation region.
Nothing to Disclose: DBD, EBT, EMFC, MF, PF, BBM, ACL, LGS
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