Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile / Methylenetetrahydrofolate reductase polymorphisms as risk factors for myelomeningocele

Background: Mandatory fortification with folic acid (FA) was implemented in Chile in 2000. Thereafter, the rate of spina bifida decreased by 52 to 55%. Genetic abnormalities in folate metabolism may be involved in the etiology of spina bifida. Aim: To evaluate the association between myelomeningocele (MM) and c.A1298C and c.C677T polymorphisms within the coding gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) in the Chilean population. Material and Methods: These polymorphisms were genotyped in 105 patients showing isolated MM, born after the onset of FA fortification, and in their parents. The transmission disequilibrium test (TDT) was performed to evaluate alterations in the transmission of both alleles and haplotypes MTHFR polymorphism. We also evaluated the presence of parent-origin-effect (POE) of alleles using the Clayton’s extension of the TDT. Results: TDT analysis showed no significant distortions in the transmission of alleles or haplotypes. Moreover, although the POE showed increased risk for maternally derived allele, this risk was not statistically significant. Conclusions: The studied variants in the MTHFR gene (c.C677T and c.A1298C) do not constitute risk factors for MM in this sample of Chilean patients and their parents.

Síndrome Proteus: contribución a su delineación clínica / Proteus syndrome: contribution to its clinical delineation

El síndrome Proteus es una hamartosis congénita, aparentemente poco frecuente, delineada recientemente. Se describen dos casos, uno con un fenotipo grave y característico, incluyendo retardo mental, y otro con asimetria moderada, macrodactilia y anomalías pulmonares quísticas graves. Estos casos corroboran la característica "polimórfica" de este síndrome. Basado en estos dos pacientes y en los trece publicados en el mundo, se analiza su fenotipo y aspectos más relevantes