Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística , Insuficiência Pancreática Exócrina , Mutação , Testes de Função Pancreática/métodos , Fibrose Cística/complicações , Fibrose Cística/genética , Fibrose Cística/fisiopatologia , Fibrose Cística/terapia , Diagnóstico Precoce , Insuficiência Pancreática Exócrina/genética , Insuficiência Pancreática Exócrina/terapia , Feminino , Humanos , Lactente , Itália , Masculino , Índice de Gravidade de Doença , Tempo para o Tratamento/normasRESUMO
Among Down syndrome (DS) children, 40-50% have congenital heart disease (CHD). Although trisomy 21 is not sufficient to cause CHD, three copies of at least part of chromosome 21 (Hsa21) increases the risk for CHD. In order to establish a genotype-phenotype correlation for CHD in DS, we built an integrated Hsa21 map of all described partial trisomy 21 (PT21) cases with sufficient indications regarding presence or absence of CHD (n=107), focusing on DS PT21 cases. We suggest a DS CHD candidate region on 21q22.2 (0.96Mb), being shared by most PT21 cases with CHD and containing three known protein-coding genes (DSCAM, BACE2, PLAC4) and four known non-coding RNAs (DSCAM-AS1, DSCAM-IT1, LINC00323, MIR3197). The characterization of a DS CHD candidate region provides a useful approach to identify specific genes contributing to the pathology and to orient further investigations and possibly more effective therapy in relation to the multifactorial pathogenesis of CHD.
