RESUMEN
Kabuki syndrome is a rare, multiple congenital anomaly/mental retardation syndrome caused by MLL2 point mutations and KDM6A microdeletions. We screened a large cohort of MLL2 mutation-negative patients for MLL2 and KDM6A exon(s) microdeletion and microduplication. Our assays failed to detect such rearrangements in MLL2 as well as in KDM6A gene. These results show that these genomic events are extremely rare in the Kabuki syndrome, substantiating its genetic heterogeneity and the search for additional causative gene(s).
Asunto(s)
Anomalías Múltiples/genética , Proteínas de Unión al ADN/genética , Heterogeneidad Genética , Enfermedades Hematológicas/genética , Histona Demetilasas/genética , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Enfermedades Vestibulares/genética , Anomalías Múltiples/diagnóstico , Adolescente , Niño , Preescolar , Exones , Cara/anomalías , Femenino , Eliminación de Gen , Duplicación de Gen , Enfermedades Hematológicas/diagnóstico , Humanos , Lactante , Masculino , Fenotipo , Análisis de Secuencia de ADN , Enfermedades Vestibulares/diagnóstico , Adulto JovenRESUMEN
Recently, due to the coronavirus pandemic, many guidelines and anti-contagion strategies continue to report unclear information about the persistence of coronavirus disease 2019 (COVID-19) in the environment. This certainly generates insecurity and fear in people, with an important psychological component that is not to be underestimated at this stage of the pandemic. The purpose of this article is to highlight all the sources currently present in the literature concerning the persistence of the different coronaviruses in the environment as well as in medical and dental settings. As this was a current study, there are still not many sources in the literature, and scientific strategies are moving towards therapy and diagnosis, rather than knowing the characteristics of the virus. Such an article could be an aid to summarize virus features and formulate new guidelines and anti-spread strategies.