But the proliferation of OI types to reflect each gene separately, supported buy PS-341 by some, has become more confusing than useful in clinical practice. For these reasons, in 2009 the Nosology Group of the International Society of Skeletal Dysplasias recommended maintaining the classification

of Sillence as the prototypical and universally accepted form to classify the degree of OI severity, and freeing it from direct molecular reference.35 Thus, as shown in Table 3, OI was grouped into five clinical categories, and the several genes that can cause OI were listed separately. In the present study, the genes IFITM5, SERPINF1, BMP1, WNT1, TMEM38B, and PLS3 were added to the original table, as they were discovered after its publication. In practice, in spite of the complex genotypic variability of OI demonstrated in recent years, its phenotypes are still classified according to Sillence. Genotypic

investigation should be indicated, especially in cases suggesting autosomal recessive inheritance, aimed at genetic counseling. The molecular study should be performed using Sanger sequencing of the several new genes, or by next-generation sequencing. Exome sequencing is useful when there is no panel of available genes, or when the involved genes are not known. CNPq (Conselho GDC 0199 Nacional de Desenvolvimento Científico e Tecnológico). The authors declare no conflicts of interest. To the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) for the post-doctoral

grant given to Eugênia Ribeiro Valadares in 2013 in the Genetics Sector of the Pediatric Clinic of Freiburg University, Germany, to develop the project “Investigation of osteogenesis imperfecta through the analysis of known genes and new candidate genes in Brazilian and German patients”, under the supervision of Prof. Dr. Bernhard Zabel, Dr. Pablo Villavicencio Lorini, and Dr. Ekkehart Lausch, remarkable individuals. “
“Asthma is a chronic, genetically-determined disease, whose prevalence in the pediatric population ranges between 19.0% and 24.3% among brazilian adolescents and schoolchildren, respectively.1 From the physiopathological viewpoint, it is characterized PLEKHB2 by chronic inflammation with the involvement of several cell types, associated with airway hyperresponsiveness, with episodes of reversible airflow limitation. It is clinically manifested by recurrent exacerbations, also called “asthma attacks” or, more appropriately, acute asthma, characterized by progressive worsening of dyspnea, coughing, wheezing, chest tightness, or a combination of these.2 The loss of clinical and functional asthma control usually occurs gradually, but it can occur abruptly in a subgroup of patients.