Asunto(s)

Odontodisplasia , Humanos

RESUMEN

Expression of the fusion genes is considered to be an important mechanism of tumorigenesis. However it is hardly ever discussed in relation to the neurodevelopmental disorders. Here we report on an 18-years-old female patient with 13.1 kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome). Using next generation sequencing we mapped the breakpoints at nucleotide resolution and showed that the deletion preserved the reading frame. In contrast to the laborious techniques previously used for the precise mapping of deletion breakpoints, our approach identified an accurate interval very rapidly. We demonstrated the expression of the PUF60-SCRIB fusion gene in patient's cells and suggest that the fusion transcript might be a cause of the atypical clinical presentation.

Asunto(s)

Deleción Cromosómica , Cromosomas Humanos Par 8/genética , Coloboma/genética , Fusión Génica , Discapacidad Intelectual/genética , Megalencefalia/genética , Escoliosis/genética , Adolescente , Puntos de Rotura del Cromosoma , Coloboma/patología , Femenino , Humanos , Discapacidad Intelectual/patología , Megalencefalia/patología , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Factores de Empalme de ARN/genética , Factores de Empalme de ARN/metabolismo , ARN Mensajero/genética , ARN Mensajero/metabolismo , Proteínas Represoras/genética , Proteínas Represoras/metabolismo , Escoliosis/patología , Síndrome , Proteínas Supresoras de Tumor/genética , Proteínas Supresoras de Tumor/metabolismo