XXXX ( @entity2175 ) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

@entity2175 @entity1 @entity72203 @entity101 @entity6 @entity5736 @entity14224 @entity5448
AIMS: @entity2175 ( @entity2175 ) comprises a heterogeneous group of monogenic forms of @entity6 caused by mutations in at least 14 genes, but mostly by mutations in @entity14224 ( @entity14224 ) and @entity5448 ( @entity5448 ). This study aims to establish a national registry of @entity2175 cases in Brazilian @entity1 , assessing published and unpublished data. METHODS: 311 @entity1 with clinical characteristics of @entity2175 were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report. RESULTS: 72 individuals had @entity14224 mutations, 9 described in Brazilian individuals for the first time. One previously unpublished novel @entity14224 mutation, @entity72203 , was found in one family. 31 individuals had @entity5448 mutations, 2 described for the first time in Brazilian individuals. Comparisons of @entity14224 probands vs @entity5448 : age 16  11 vs 35  20years; age at diagnosis 11  8 vs 21  7years; BMI 19  6 vs 25  6kg/m(2); @entity5736 users 5 vs 83%; insulin users 5 vs 17%; presence of arterial @entity101 0 vs. 33%, all p<0.05. No differences were observed in lipids and C-peptide. CONCLUSIONS: Most @entity2175 cases in Brazil are due to @entity14224 mutations. In agreement with other studied populations, novel mutations are common. Only 14% of @entity1 with @entity6 carry a @entity5448 mutation. Diagnosis of other rare forms of @entity2175 is still a challenge in Brazilian population, as well as adequate strategies to screen individuals for molecular diagnosis.
